U.S. patent application number 12/953833 was filed with the patent office on 2011-12-01 for genetic polymorphisms associated with rheumatoid arthritis, methods of detection and uses thereof.
This patent application is currently assigned to CELERA CORPORATION. Invention is credited to Ann B. BEGOVICH, Steven J. SCHRODI.
Application Number | 20110293626 12/953833 |
Document ID | / |
Family ID | 40429618 |
Filed Date | 2011-12-01 |
United States Patent
Application |
20110293626 |
Kind Code |
A1 |
SCHRODI; Steven J. ; et
al. |
December 1, 2011 |
GENETIC POLYMORPHISMS ASSOCIATED WITH RHEUMATOID ARTHRITIS, METHODS
OF DETECTION AND USES THEREOF
Abstract
The present invention provides compositions and methods based on
genetic polymorphisms that are associated with autoimmune disease,
particularly rheumatoid arthritis. For example, the present
invention relates to nucleic acid molecules containing the
polymorphisms, variant proteins encoded by these nucleic acid
molecules, reagents for detecting the polymorphic nucleic acid
molecules and variant proteins, and methods of using the nucleic
acid molecules and proteins as well as methods of using reagents
for their detection.
Inventors: |
SCHRODI; Steven J.;
(Livermore, CA) ; BEGOVICH; Ann B.; (El Cerrito,
CA) |
Assignee: |
CELERA CORPORATION
Alameda
CA
|
Family ID: |
40429618 |
Appl. No.: |
12/953833 |
Filed: |
November 24, 2010 |
Related U.S. Patent Documents
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Application
Number |
Filing Date |
Patent Number |
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12231877 |
Sep 4, 2008 |
7863021 |
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12953833 |
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60935887 |
Sep 5, 2007 |
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Current U.S.
Class: |
424/142.1 ;
435/6.11; 506/9 |
Current CPC
Class: |
C12Q 2600/106 20130101;
C12Q 1/6883 20130101; C12Q 2600/136 20130101; C12Q 2600/158
20130101; C12Q 2600/156 20130101; C12Q 2600/118 20130101; A61P
19/02 20180101; C12Q 2600/172 20130101 |
Class at
Publication: |
424/142.1 ;
435/6.11; 506/9 |
International
Class: |
A61K 39/395 20060101
A61K039/395; C40B 30/04 20060101 C40B030/04; A61P 19/02 20060101
A61P019/02; C12Q 1/68 20060101 C12Q001/68 |
Claims
1. A method of determining whether a human has an altered risk for
rheumatoid arthritis, comprising testing nucleic acid from said
human for the presence or absence of a polymorphism selected from
the group consisting of the polymorphisms represented by position
101 of any one of the nucleotide sequences of SEQ ID NOS:526,
92-525, and 527-584 or its complement, wherein the polymorphism
indicates an altered risk for rheumatoid arthritis.
2. The method of claim 1, wherein the altered risk is an increased
risk or a decreased risk.
3. The method of claim 1, wherein said nucleic acid is a nucleic
acid extract from a biological sample from said human.
4. The method of claim 3, wherein said biological sample is blood,
saliva, or buccal cells.
5. The method of claim 3, further comprising preparing said nucleic
acid extract from said biological sample prior to said testing
step.
6. The method of claim 3, further comprising obtaining said
biological sample from said human prior to said preparing step.
7. The method of claim 1, wherein said testing step comprises
nucleic acid amplification.
8. The method of claim 7, wherein said nucleic acid amplification
is carried out by polymerase chain reaction.
9. The method of claim 1, further comprising correlating the
presence of the polymorphism with an altered risk for rheumatoid
arthritis.
10. The method of claim 9, wherein said correlating step is
performed by computer software.
11. The method of claim 1, wherein said testing is performed using
sequencing, 5' nuclease digestion, molecular beacon assay,
oligonucleotide ligation assay, size analysis, single-stranded
conformation polymorphism analysis, or denaturing gradient gel
electrophoresis (DGGE).
12. The method of any one of claim 1, wherein said testing is
performed using an allele-specific method.
13. The method of claim 12, wherein said allele-specific method is
allele-specific probe hybridization, allele-specific primer
extension, or allele-specific amplification.
14. The method of claim 1 which is an automated method.
15. A method of determining whether a human has an altered risk for
rheumatoid arthritis, comprising testing nucleic acid from said
human for the presence or absence of a first polymorphism which is
in linkage disequilibrium with a second polymorphism, wherein the
second polymorphism is a polymorphism selected from the group
consisting of the polymorphisms represented by position 101 of any
one of the nucleotide sequences of SEQ ID NOS:92-584 or its
complement, and wherein the first polymorphism indicates an altered
risk for rheumatoid arthritis.
16. The method of claim 15, wherein the altered risk is an
increased risk or a decreased risk.
17. The method of claim 15, wherein the first polymorphism is
selected from the group consisting of the polymorphisms in Table
4.
18. The method of claim 1, wherein said polymorphism comprises at
least one polymorphism selected from the group consisting of
rs2239657, rs7021880, and rs7021049.
19. The method of claim 18, wherein said polymorphism comprises a
haplotype selected from the group consisting of
rs2239657(G)-rs7021880(C)-rs7021049(G) and
rs2239657(A)-rs7021880(G)-rs7021049(T).
20. The method of claim 19, wherein the
rs2239657(G)-rs7021880(C)-rs7021049(G) haplotype indicates an
increased risk for rheumatoid arthritis and the
rs2239657(A)-rs7021880(G)-rs7021049(T) haplotype indicates a
decreased risk for rheumatoid arthritis.
21. The method of claim 18, wherein said polymorphism comprises a
diplotype selected from the group consisting of
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) and
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)--
rs7021049(T).
22. The method of claim 21, wherein the
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) diplotype indicates an increased risk for rheumatoid arthritis
and the
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs70-
21049(T) diplotype indicates a decreased risk for rheumatoid
arthritis.
23. The method of claim 18, further comprising testing nucleic acid
from said human for at least one other polymorphism selected from
the group consisting of PTPN22 R620W and HLA-DRB1, wherein the
PTPN22 R620 allele (CC genotype) and OSE at HLA-DRB1 indicate a
decreased risk for rheumatoid arthritis, and the PTPN22 W620 allele
(TT or TC genotype) and 2SE at HLA-DRB1 indicate an increased risk
for rheumatoid arthritis.
24. A method of reducing the risk of rheumatoid arthritis in a
human, comprising administering to said human an effective amount
of a therapeutic agent, said human having been identified as having
an increased risk for rheumatoid arthritis due to the presence of a
polymorphism selected from the group consisting of the
polymorphisms represented by position 101 of any one of the
nucleotide sequences of SEQ ID NOS:92-584 or its complement.
25. The method of claim 24, wherein said therapeutic agent
comprises a TNF inhibitor.
26. A method of reducing the risk of rheumatoid arthritis in a
human, comprising: (a) identifying a human who has an increased
risk for rheumatoid arthritis due to the presence of a polymorphism
selected from the group consisting of the polymorphisms represented
by position 101 of any one of the nucleotide sequences of SEQ ID
NOS:92-584 or its complement; and (b) administering to said human
an effective amount of a therapeutic agent, thereby reducing the
risk of rheumatoid arthritis in said human.
27. The method of claim 26, wherein said therapeutic agent
comprises a TNF inhibitor.
28. The method of claim 26, wherein step (a) comprises testing
nucleic acid from said human for the presence or absence of said
polymorphism.
29. The method of claim 12 in which said testing is carried out by
using an allele-specific primer selected from the group consisting
of the allele-specific primers in Table 3.
30. The method of claim 1, further comprising selecting said human
for inclusion in a clinical trial of a therapeutic agent.
31. The method of claim 30, wherein said therapeutic agent
comprises a TNF inhibitor.
32. A kit for carrying out the method of claim 1, wherein the kit
comprises at least one polynucleotide detection reagent, and
wherein the polynucleotide detection reagent selectively hybridizes
to said nucleic acid in the presence of said polymorphism and does
not hybridize to said nucleic acid in the absence of said
polymorphism.
Description
FIELD OF THE INVENTION
[0001] The present invention is in the field of autoimmune disease,
particularly rheumatoid arthritis (RA). In particular, the present
invention relates to specific single nucleotide polymorphisms
(SNPs) in the human genome, and their association with autoimmune
disease, particularly RA. The SNPs disclosed herein can be used as
targets for the design of diagnostic reagents and the development
of therapeutic agents, as well as for disease association and
linkage analysis. In particular, the SNPs of the present invention
are useful for such uses as identifying an individual who has an
increased or decreased risk of developing autoimmune disease
(particularly RA), for early detection of the disease, for
providing clinically important information for the prevention
and/or treatment of autoimmune disease, for predicting progression
or recurrence of autoimmune disease, for predicting the seriousness
or consequences of autoimmune disease in an individual, for
determining the prognosis of an individual's recovery from
autoimmune disease, for screening and selecting therapeutic agents,
and for predicting a patient's response to therapeutic agents such
as evaluating the likelihood of an individual responding positively
to tumor necrosis factor (TNF) inhibitors, particularly for the
treatment or prevention of autoimmune disease (such as RA). The
SNPs disclosed herein are also useful for human identification
applications. Methods, assays, kits, and reagents for detecting the
presence of these polymorphisms and their encoded products are
provided.
BACKGROUND OF THE INVENTION
[0002] Autoimmune Diseases & Rheumatoid Arthritis (RA)
[0003] Autoimmune diseases are a major health issue, occurring in
up to 3% of the general population (Cooper & Stroehla, 2003,
Autoimmunity Rev. 2:119-125). Although the clinical phenotypes of
these diseases are distinct, they share certain common elements,
including geographical distributions, population frequencies,
therapeutic strategies, and some clinical features which suggest
potential similarities in the underlying mechanisms of these
diseases. Furthermore, the aggregation of multiple autoimmune
diseases in the same individual or family supports the presence of
common environmental and genetic factors that predispose an
individual to autoimmunity (Vyse & Todd, 1996, Cell 85:311-318;
Cooper & Stroehla, 2003, Autoimmunity Rev. 2:119-125; Ueda et
al., 2003, Nature 423:506-511).
[0004] Inflammatory disorders are related to autoimmune disease.
Examples of autoimmune and inflammatory diseases include rheumatoid
arthritis, type 1 diabetes, multiple sclerosis, systemic lupus
erythematosus, inflammatory bowel diseases, psoriasis, thyroiditis,
celiac disease, pernicious anemia, asthma, vitiligo,
glomerulonephritis, Graves' disease, myocarditis, Sjogren disease,
and primary systemic vasculitis.
[0005] Rheumatoid arthritis (RA) is one of the most common
autoimmune diseases, with a prevalence of between 0.5-1% in most
adult populations. It is found worldwide and affects all ethnic
groups, although it is more common in Europe and the United States
than in Asia (Abdel-Nasser et al., 1997, Semin. Arthritis Rheum.
27:123-140; Silman & Hochberg, 1993, Rheumatoid Arthritis,
Epidemiology of the Rheumatic Diseases, Oxford University Press,
pp. 7-68) and there is a gradient in Europe with a higher
prevalence in the north (Cimmino et al., 1998, Ann. Rheum. Diseases
57:315-318). RA can also occur in any age group. Onset is typically
between the ages of 40 and 60 years, and the incidence increases
with age until approximately 70-80 years, at which point it
declines (Abdel-Nasser et al., 1997, Semin. Arthritis Rheum. 27:
123-140; Silman & Hochberg, 1993, Epidemiology of the Rheumatic
Diseases. Oxford University Press. pp. 7-68). RA is two to three
times more common in women than men, depending on age (Linos et
al., 1980, J. Chronic Diseases 33:73-77). The observations that (i)
women in the postpartum period are at increased risk for RA onset
and (ii) women with RA commonly experience remission during
pregnancy followed by postpartum relapse (Barrett et al., 1999,
Arhritis Rheum. 42:1219-1227) suggest that hormones play a role in
disease onset.
[0006] RA is a chronic, progressive disease characterized by the
infiltration of activated lymphocytes and macrophages into the
synovial lining of the affected joint. These cells produce
cytokines and degradative enzymes, which mediate inflammation and
destruction of the joint architecture, often leading to permanent
disability. RA is a systemic disease; extra-articular
manifestations are often present and can range from relatively
minor problems, such as rheumatoid nodules, to life-threatening
organ disease.
[0007] Clinically, RA varies from a very mild to a severely
disabling disease with upwards of one in 20 patients progressing to
severe, erosive disease. Joint damage occurs early in disease with
the greatest progression to joint abnormalities taking place during
the first six years. Within three years of disease onset, as many
as 70% of patients show some radiographic evidence of joint damage
(Lipsky et al., 1994, Rheumatoid Arthritis, Harrison's Principles
of Internal Medicine, 13th ed. New York, McGraw-Hill, Inc., pp.
1648-1655). At present, there is no cure for RA, and the joint
damage is irreversible.
[0008] Although the course of RA is highly variable, most patients
with clinical, persistent RA eventually develop debilitating joint
damage and deformation, resulting in progressive functional
limitation. Consequently, RA is considered a highly disabling
disease with a considerable economic impact that some liken to that
of coronary artery disease (Allaire et al., 1994, Pharmacoeconomics
6:513-522). A 1993 study in the U.S. estimated total annual direct
costs of $5275 per patient with indirect costs as high as $21,000
per year (Merkesdal et al., 2001, Arthritis Rheum. 44:528-534).
[0009] RA is thought to be precipitated by the interplay of
environmental and genetic factors. Although several environmental
triggers have been suggested, such as infection (Harris, 1990, N.
Engl. J. Med. 322:1277-1289), immunization (Symmons and
Chakravarty, 1993, Ann. Rheum. Dis. 52:843-844), diet (Shapiro et
al., 1996, Epidemiology 7:256-263), and smoking (Symmons et al.,
1997, Arthritis Rheum. 40:1955-1961), none have been established. A
genetic component to RA susceptibility has long been indicated by
data from twin and family studies. It is estimated that the
concordance between monozygotic twins is in the range of 12-15%
while the prevalence in siblings of RA probands is approximately
2-4%, both well above the estimated background population
prevalence of 0.5-1% (Seldin et al., 1999, Arthritis Rheum.
42:1071-1079). From these data, the disease heritability has been
estimated at approximately 60% (MacGregor et al., 2000, Arthritis
Rheum. 43:30-37) while the relative recurrence risk for siblings
(.lamda.s) of probands with RA is estimated at between 5 and 10
(Seldin et al. 1999; Jawaheer et al., 2001, Am. J. Hum. Genet.
68:927-936).
[0010] The increasing availability of specific therapies that can
halt disease progression has magnified the need for accurate early
diagnosis of RA (Maini et al., 1999, Lancet 354:1932-1939; Lipsky
et al., 2000, N. Engl. J. Med. 343: 1594-1602; Weinblatt et al.,
1999, N. Engl. J. Med. 340: 253-259). The most commonly used
diagnostic criteria are those adopted by the American College of
Rheumatology in 1987 (Arnett et al., 1988, Arthritis Rheum. 31:
315-324), which are based on a combination of clinical, laboratory
and radiological assessments. A patient is classified as having RA
if he or she satisfies at least four of the following seven
criteria: (i) morning stiffness lasting at least one hour; (ii)
arthritis of three or more joint areas; (iii) arthritis of hand
joints; (iv) symmetric arthritis; (v) rheumatoid nodules; (vi)
presence of serum rheumatoid factor (RF); and (vii) radiographic
changes in hand or wrist joints. Using these criteria, a trained
rheumatologist can usually diagnose RA in individuals who have had
disease for more than 12 weeks (Harrison et al., 1998, J.
Rheumatol. 25: 2324-2330). However, these criteria are largely
ineffective for patients during early stages of the disease, such
as during the first 12 weeks of disease (Green et al., 1999,
Arthritis Rheum. 42: 2184-2188), during which time irreversible
joint damage has already begun, and cannot predict which patients
will develop severe erosive disease and therefore benefit from
aggressive early disease modifying therapy.
[0011] Early initiation of therapy can provide considerable
benefit, not only by reducing pain and inflammation but also by
reducing or eliminating the loss of function that accompanies
persistent RA, especially when therapy is administered prior to the
occurrence of irreversible joint damage. Consequently, there is a
need for novel diagnostic markers that, for example, enable the
detection of RA, particularly at an early stage, or that enable the
identification of individuals who are predisposed to developing
RA.
[0012] Single Nucleotide Polymorphisms (SNPs)
[0013] The genomes of all organisms undergo spontaneous mutation in
the course of their continuing evolution, generating variant forms
of progenitor genetic sequences. Gusella, Ann Rev Biochem
55:831-854 (1986). A variant form may confer an evolutionary
advantage or disadvantage relative to a progenitor form or may be
neutral. In some instances, a variant form confers an evolutionary
advantage to individual members of a species and is eventually
incorporated into the DNA of many or most members of the species
and effectively becomes the progenitor form. Additionally, the
effects of a variant form may be both beneficial and detrimental,
depending on the environment. For example, a heterozygous sickle
cell mutation confers resistance to malaria, but a homozygous
sickle cell mutation is usually lethal. In many cases, both
progenitor and variant forms survive and co-exist in a species
population. The coexistence of multiple forms of a genetic sequence
segregating at appreciable frequencies is defined as a genetic
polymorphism, which includes single nucleotide polymorphisms
(SNPs).
[0014] Approximately 90% of all genetic polymorphisms in the human
genome are SNPs. SNPs are single base positions in DNA at which
different alleles, or alternative nucleotides, exist in a
population. The SNP position (interchangeably referred to herein as
SNP, SNP site, SNP locus, SNP marker, or marker) is usually
preceded by and followed by highly conserved sequences of the
allele (e.g., sequences that vary in less than 1/100 or 1/1000
members of the populations). An individual may be homozygous or
heterozygous for an allele at each SNP position. A SNP can, in some
instances, be referred to as a "cSNP" to denote that the nucleotide
sequence containing the SNP is an amino acid coding sequence.
[0015] A SNP may arise from a substitution of one nucleotide for
another at the polymorphic site. Substitutions can be transitions
or transversions. A transition is the replacement of one purine
nucleotide by another purine nucleotide, or one pyrimidine by
another pyrimidine. A transversion is the replacement of a purine
by a pyrimidine, or vice versa. A SNP may also be a single base
insertion or deletion variant referred to as an "indel." Weber et
al., "Human diallelic insertion/deletion polymorphisms," Am J Hum
Genet. 71(4):854-62 (October 2002).
[0016] A synonymous codon change, or silent mutation/SNP (terms
such as "SNP," "polymorphism," "mutation," "mutant," "variation,"
and "variant" are used herein interchangeably), is one that does
not result in a change of amino acid due to the degeneracy of the
genetic code. A substitution that changes a codon coding for one
amino acid to a codon coding for a different amino acid (i.e., a
non-synonymous codon change) is referred to as a missense mutation.
A nonsense mutation results in a type of non-synonymous codon
change in which a stop codon is formed, thereby leading to
premature termination of a polypeptide chain and a truncated
protein. A read-through mutation is another type of non-synonymous
codon change that causes the destruction of a stop codon, thereby
resulting in an extended polypeptide product. While SNPs can be
bi-, tri-, or tetra-allelic, the vast majority of SNPs are
bi-allelic, and are thus often referred to as "bi-allelic markers,"
or "di-allelic markers." As used herein, references to SNPs and SNP
genotypes include individual SNPs and/or haplotypes, which are
groups of SNPs that are generally inherited together. Haplotypes
can have stronger correlations with diseases or other phenotypic
effects compared with individual SNPs, and therefore may provide
increased diagnostic accuracy in some cases. Stephens et al.,
Science 293:489-493 (July 2001).
[0017] Causative SNPs are those SNPs that produce alterations in
gene expression or in the expression, structure, and/or function of
a gene product, and therefore are most predictive of a possible
clinical phenotype. One such class includes SNPs falling within
regions of genes encoding a polypeptide product, i.e. cSNPs. These
SNPs may result in an alteration of the amino acid sequence of the
polypeptide product (i.e., non-synonymous codon changes) and give
rise to the expression of a defective or other variant protein.
Furthermore, in the case of nonsense mutations, a SNP may lead to
premature termination of a polypeptide product. Such variant
products can result in a pathological condition, e.g., genetic
disease. Examples of genes in which a SNP within a coding sequence
causes a genetic disease include sickle cell anemia and cystic
fibrosis.
[0018] Causative SNPs do not necessarily have to occur in coding
regions; causative SNPs can occur in, for example, any genetic
region that can ultimately affect the expression, structure, and/or
activity of the protein encoded by a nucleic acid. Such genetic
regions include, for example, those involved in transcription, such
as SNPs in transcription factor binding domains, SNPs in promoter
regions, in areas involved in transcript processing, such as SNPs
at intron-exon boundaries that may cause defective splicing, or
SNPs in mRNA processing signal sequences such as polyadenylation
signal regions. Some SNPs that are not causative SNPs nevertheless
are in close association with, and therefore segregate with, a
disease-causing sequence. In this situation, the presence of a SNP
correlates with the presence of, or predisposition to, or an
increased risk in developing the disease. These SNPs, although not
causative, are nonetheless also useful for diagnostics, disease
predisposition screening, and other uses.
[0019] An association study of a SNP and a specific disorder
involves determining the presence or frequency of the SNP allele in
biological samples from individuals with the disorder of interest,
such as autoimmune disease, and comparing the information to that
of controls (i.e., individuals who do not have the disorder;
controls may be also referred to as "healthy" or "normal"
individuals) who are preferably of similar age and race. The
appropriate selection of patients and controls is important to the
success of SNP association studies. Therefore, a pool of
individuals with well-characterized phenotypes is extremely
desirable.
[0020] A SNP may be screened in diseased tissue samples or any
biological sample obtained from a diseased individual, and compared
to control samples, and selected for its increased (or decreased)
occurrence in a specific pathological condition, such as
pathologies related to autoimmune disease and in particular, RA.
Once a statistically significant association is established between
one or more SNP(s) and a pathological condition (or other
phenotype) of interest, then the region around the SNP can
optionally be thoroughly screened to identify the causative genetic
locus/sequence(s) (e.g., causative SNP/mutation, gene, regulatory
region, etc.) that influences the pathological condition or
phenotype. Association studies may be conducted within the general
population and are not limited to studies performed on related
individuals in affected families (linkage studies).
[0021] Clinical trials have shown that patient response to
treatment with pharmaceuticals is often heterogeneous. There is a
continuing need to improve pharmaceutical agent design and therapy.
In that regard, SNPs can be used to identify patients most suited
to therapy with particular pharmaceutical agents (this is often
termed "pharmacogenomics"). Similarly, SNPs can be used to exclude
patients from certain treatment due to the patient's increased
likelihood of developing toxic side effects or their likelihood of
not responding to the treatment. Pharmacogenomics can also be used
in pharmaceutical research to assist the drug development and
selection process. Linder et al., Clinical Chemistry 43:254 (1997);
Marshall, Nature Biotechnology 15:1249 (1997); International Patent
Application WO 97/40462, Spectra Biomedical; and Schafer et al.,
Nature Biotechnology 16:3 (1998).
SUMMARY OF THE INVENTION
[0022] The present invention relates to the identification of SNPs,
as well as unique combinations of such SNPs and haplotypes of SNPs,
that are associated with autoimmune disease, particularly
rheumatoid arthritis (RA). The polymorphisms disclosed herein are
directly useful as targets for the design of diagnostic and
prognostic reagents and the development of therapeutic and
preventive agents for use in the diagnosis, prognosis, treatment,
and/or prevention of autoimmune disease (particularly RA), as well
as for predicting a patient's response to therapeutic agents such
as tumor necrosis factor (TNF) inhibitors, particularly for the
treatment or prevention of autoimmune disease.
[0023] Based on the identification of SNPs associated with
autoimmune disease (particularly RA), the present invention also
provides methods of detecting these variants as well as the design
and preparation of detection reagents needed to accomplish this
task. The invention specifically provides, for example, SNPs
associated with autoimmune disease (particularly RA), isolated
nucleic acid molecules (including DNA and RNA molecules) containing
these SNPs, variant proteins encoded by nucleic acid molecules
containing such SNPs, antibodies to the encoded variant proteins,
computer-based and data storage systems containing the novel SNP
information, methods of detecting these SNPs in a test sample,
methods of identifying individuals who have an altered (i.e.,
increased or decreased) risk of developing autoimmune disease
(particularly RA), methods for determining the risk of an
individual for recurring autoimmune disease (e.g., recurrent RA),
methods for prognosing the severity or consequences of autoimmune
disease, methods of treating an individual who has an increased
risk for autoimmune disease, and methods for identifying
individuals (e.g., determining a particular individual's
likelihood) who have an altered (i.e., increased or decreased)
likelihood of responding to drug treatment, particularly drug
treatment of autoimmune disease (e.g., treatment or prevention of
RA), based on the presence or absence of one or more particular
nucleotides (alleles) at one or more SNP sites disclosed herein or
the detection of one or more encoded variant products (e.g.,
variant mRNA transcripts or variant proteins), methods of
identifying individuals who are more or less likely to respond to a
treatment (or more or less likely to experience undesirable side
effects from a treatment), methods of screening for compounds
useful in the treatment or prevention of a disorder associated with
a variant gene/protein, compounds identified by these methods,
methods of treating or preventing disorders mediated by a variant
gene/protein, methods of using the novel SNPs of the present
invention for human identification, etc.
[0024] The present invention further provides methods for selecting
or formulating a treatment regimen (e.g., methods for determining
whether or not to administer TNF inhibitor treatment to an
individual having autoimmune disease, or who is at risk for
developing autoimmune disease in the future, or who has previously
had autoimmune disease, methods for selecting a particular TNF
inhibitor-based treatment regimen such as dosage and frequency of
administration of TNF inhibitor, or a particular form/type of TNF
inhibitor such as a particular antibody, fusion protein, small
molecule compound, nucleic acid agent, pharmaceutical formulation,
etc., methods for administering an alternative, non-TNF inhibitor
treatment to individuals who are predicted to be unlikely to
respond positively to TNF inhibitor treatment, etc.), and methods
for determining the likelihood of experiencing toxicity or other
undesirable side effects from TNF inhibitor treatment, etc. The
present invention also provides methods for selecting individuals
to whom a TNF inhibitor or other therapeutic will be administered
based on the individual's genotype, and methods for selecting
individuals for a clinical trial of a TNF inhibitor or other
therapeutic agent based on the genotypes of the individuals (e.g.,
selecting individuals to participate in the trial who are most
likely to respond positively from the TNF inhibitor treatment
and/or excluding individuals from the trial who are unlikely to
respond positively from the TNF inhibitor treatment based on their
SNP genotype(s), or selecting individuals who are unlikely to
respond positively to TNF inhibitors based on their SNP genotype(s)
to participate in a clinical trial of another type of drug that may
benefit them). The present invention further provides methods for
reducing an individual's risk of developing autoimmune disease
(such as RA) using TNF inhibitor treatment, including preventing
recurring autoimmune disease (e.g., recurrent RA) using TNF
inhibitor treatment, when said individual carries one or more SNPs
identified herein as being associated with autoimmune disease.
[0025] In Tables 1 and 2, the present invention provides gene
information, references to the identification of transcript
sequences (SEQ ID NOS:1-16), encoded amino acid sequences (SEQ ID
NOS:17-32), genomic sequences (SEQ ID NOS:78-91), transcript-based
context sequences (SEQ ID NOS:33-77) and genomic-based context
sequences (SEQ ID NOS:92-584) that contain the SNPs of the present
invention, and extensive SNP information that includes observed
alleles, allele frequencies, populations/ethnic groups in which
alleles have been observed, information about the type of SNP and
corresponding functional effect, and, for cSNPs, information about
the encoded polypeptide product. The actual transcript sequences
(SEQ ID NOS:1-16), amino acid sequences (SEQ ID NOS:17-32), genomic
sequences (SEQ ID NOS:78-91), transcript-based SNP context
sequences (SEQ ID NOS:33-77), and genomic-based SNP context
sequences (SEQ ID NOS:92-584), together with primer sequences (SEQ
ID NOS:585-1004) are provided in the Sequence Listing.
[0026] In certain exemplary embodiments, the invention provides
methods for identifying an individual who has an altered risk for
developing autoimmune disease such as RA (including, for example, a
first incidence and/or a recurrence of the disease), in which the
method comprises detecting a single nucleotide polymorphism (SNP)
in any one of the nucleotide sequences of SEQ ID NOS:1-16, SEQ ID
NOS:33-77, SEQ ID NOS:78-91, and SEQ ID NOS:92-584 in said
individual's nucleic acids, wherein the SNP is specified in Table 1
and/or Table 2, and the presence of the SNP is indicative of an
altered risk for autoimmune disease in said individual. In certain
embodiments, the autoimmune disease is RA. In certain exemplary
embodiments of the invention, SNPs that occur naturally in the
human genome are provided as isolated nucleic acid molecules. These
SNPs are associated with autoimmune disease, particular RA, such
that they can have a variety of uses in the diagnosis, prognosis,
treatment, and/or prevention of autoimmune disease and related
pathologies, and in the treatment or prevention of autoimmune
disease, particularly by using TNF inhibitors. In an alternative
embodiment, a nucleic acid of the invention is an amplified
polynucleotide, which is produced by amplification of a
SNP-containing nucleic acid template. In another embodiment, the
invention provides for a variant protein that is encoded by a
nucleic acid molecule containing a SNP disclosed herein.
[0027] In yet another embodiment of the invention, a reagent for
detecting a SNP in the context of its naturally-occurring flanking
nucleotide sequences (which can be, e.g., either DNA or mRNA) is
provided. In particular, such a reagent may be in the form of, for
example, a hybridization probe or an amplification primer that is
useful in the specific detection of a SNP of interest. In an
alternative embodiment, a protein detection reagent is used to
detect a variant protein that is encoded by a nucleic acid molecule
containing a SNP disclosed herein. A preferred embodiment of a
protein detection reagent is an antibody or an antigen-reactive
antibody fragment. Various embodiments of the invention also
provide kits comprising SNP detection reagents, and methods for
detecting the SNPs disclosed herein by employing detection
reagents.
[0028] In various embodiments, the present invention provides for a
method of identifying an individual having an increased or
decreased risk of developing autoimmune disease (e.g., RA) by
detecting the presence or absence of one or more SNP alleles (or
haplotypes or diplotypes) disclosed herein. In other embodiments, a
method for diagnosis or prognosis of autoimmune disease (e.g., RA)
by detecting the presence or absence of one or more SNP alleles (or
haplotypes or diplotypes) disclosed herein is provided. The present
invention also provides methods for evaluating whether an
individual is likely (or unlikely) to respond to TNF inhibitor
treatment, particularly TNF inhibitor treatment of autoimmune
disease, by detecting the presence or absence of one or more SNP
alleles (or haplotypes or diplotypes) disclosed herein.
[0029] In certain exemplary embodiments, the invention provides
methods and compositions based on any of the following SNPs,
individually or in any combination: rs1953126, rs10985196,
rs6478486, rs4836834, rs2239657, rs7021880, rs7021049, rs10760117,
rs7046030, rs12683459, rs1323472, rs942152, rs2900180, rs7026635,
rs10818527, rs1609810, rs881375, and the other SNPs disclosed
herein (such as the SNPs provided in any of Tables 1-7 and 9-16),
as well as combinations thereof. For example, in certain exemplary
embodiments, the invention provides methods for determining an
individual's risk for developing autoimmune disease (particularly
RA), methods for diagnosing or prognosing autoimmune disease
(particularly RA), methods for predicting an individual's response
to a TNF inhibitor or other drug, as well as other methods of use,
by detecting which allele (e.g., nucleotide) is present at any or
all of these SNPs, as well as reagents and other compositions for
carrying out these methods.
[0030] In certain exemplary embodiments, the invention provides
methods and compositions based on combinations consisting of,
consisting essentially of, or comprising the SNPs rs2239657,
rs7021880, and rs7021049, and subcombinations thereof. For example,
in certain exemplary embodiments, the invention provides methods
for determining an individual's risk for developing autoimmune
disease, particularly RA, by detecting which allele (e.g.,
nucleotide) is present at any or all of SNPs rs2239657, rs7021880,
and rs7021049, as well as reagents and other compositions for
carrying out these methods. Similarly, the invention also provides
methods such as diagnosing or prognosing autoimmune disease,
particularly RA, as well as methods for predicting an individual's
response to a drug, particularly a TNF inhibitor, by detecting
which allele (e.g., nucleotide) is present at any or all of SNPs
rs2239657, rs7021880, and rs7021049, as well as reagents and other
compositions for carrying out these and other methods.
[0031] In certain further embodiments, the invention provides
haplotypes consisting of, consisting essentially of, or comprising
the following combinations of alleles at SNPs rs2239657, rs7021880,
and rs7021049: rs2239657(A)-rs7021880(G)-rs7021049(T) as a
protective haplotype, rs2239657(G)-rs7021880(C)-rs7021049(G) as a
risk (predisposition) haplotype, as well as
rs2239657(A)-rs7021880(G)-rs7021049(G) and
rs2239657(G)-rs7021880(G)-rs7021049(G) (see, e.g., Table 10). In
certain further embodiments, the invention provides diplotypes
consisting of, consisting essentially of, or comprising the
following combinations of alleles at SNPs rs2239657, rs7021880, and
rs7021049:
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs702104-
9(T) as a protective diplotype,
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) as a risk (predisposition) diplotype, as well as
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(G)-rs7021880(C)-rs702104-
9(G), particularly as a risk (predisposition) diplotype (see, e.g.,
Table 11).
[0032] Examples of other combinations of SNPs (such as haplotypes
or diplotypes) of the invention include those consisting of,
consisting essentially of, or comprising the following combinations
of SNPs, as well as subcombinations of any of these SNPs:
rs6478486-rs4836834-rs2239657-rs7021880-rs7021049 and
rs2239657-rs7021880-rs7021049-rs2900180-rs2269066, as well as other
haplotypes and diplotypes between and/or including rs10985070 and
rs2900180.
[0033] In certain exemplary embodiments, the invention provides
methods and compositions based on the any of the SNPs disclosed
herein, particularly the TRAF1 SNPs disclosed herein (and
combinations thereof such as haplotypes and diplotypes), and
especially SNPs rs2239657, rs7021880, and rs7021049 (as well as
subcombination thereof), in combination with PTPN22 and/or HLA-DRB1
polymorphisms, such as shown in FIG. 1 and Table 15. For example,
the TRAF1 risk diplotype
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) and/or the TRAF1 protective diplotype
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs702104-
9(T) can be detected in combination with PTPN22 and/or HLA-DRB1
polymorphisms, particularly the R620W PTPN22 polymorphism (e.g., in
which a CC genotype indicates homozygosity for the protective R620
allele, and TT and TC genotypes indicate carriage of the risk W620
allele) and/or the number of copies of the HLA-DRB1 shared epitope
(e.g., OSE, 1SE, or 2SE), such as to determine an individual's risk
for developing autoimmune disease, particularly RA. For example,
individuals with the protective genotype at all three loci (OSE for
HLA-DRB1, CC genotype (R620 allele) for PTPN22 and the
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs702104-
9(T) TRAF1 diplotype) have a substantially reduced predicted risk
of RA compared with individuals with the risk genotype at all three
loci (2SE for HLA-DRB1, TT or TC genotype (W620 allele) at PTPN22,
and the
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) TRAF1 diplotype). Between these lowest and highest risk
categories, risk for RA increases or decreases commensurately
according to an invidual's particular combination of risk or
protective genotypes at each of the TRAF1 locus (e.g., in which the
rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs702104-
9(T) diplotype indicates lower risk and the
rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs702104-
9(G) diplotype indicates higher risk), the PTPN22 locus (e.g., in
which a CC genotype/R620 allele indicates lower risk for RA, and at
least one T nucleotide (TT or TC genotype)/W620 allele indicates
higher risk for RA), and/or the HLA-DRB1 locus (e.g., in which OSE
indicates lowest risk, 1SE indicates intermediate risk, and 2SE
indicates highest risk) (see FIG. 1 and Table 15 as an
example).
[0034] The nucleic acid molecules of the invention can be inserted
in an expression vector, such as to produce a variant protein in a
host cell. Thus, the present invention also provides for a vector
comprising a SNP-containing nucleic acid molecule,
genetically-engineered host cells containing the vector, and
methods for expressing a recombinant variant protein using such
host cells. In another specific embodiment, the host cells,
SNP-containing nucleic acid molecules, and/or variant proteins can
be used as targets in a method for screening and identifying
therapeutic agents or pharmaceutical compounds useful in the
treatment or prevention of autoimmune disease (particularly
RA).
[0035] An aspect of this invention is a method for treating or
preventing autoimmune disease such as RA (including, for example, a
first occurrence and/or a recurrence of the disease), in a human
subject wherein said human subject harbors a SNP, gene, transcript,
and/or encoded protein identified in Tables 1 and 2, which method
comprises administering to said human subject a therapeutically or
prophylactically effective amount of one or more agents
counteracting the effects of the disease, such as by inhibiting (or
stimulating) the activity of a gene, transcript, and/or encoded
protein identified in Tables 1 and 2.
[0036] Another aspect of this invention is a method for identifying
an agent useful in therapeutically or prophylactically treating
autoimmune disease (particularly RA), in a human subject wherein
said human subject harbors a SNP, gene, transcript, and/or encoded
protein identified in Tables 1 and 2, which method comprises
contacting the gene, transcript, or encoded protein with a
candidate agent under conditions suitable to allow formation of a
binding complex between the gene, transcript, or encoded protein
and the candidate agent and detecting the formation of the binding
complex, wherein the presence of the complex identifies said
agent.
[0037] Another aspect of this invention is a method for treating or
preventing autoimmune disease (such as RA), in a human subject, in
which the method comprises:
[0038] (i) determining that said human subject harbors a SNP, gene,
transcript, and/or encoded protein identified in Tables 1 and 2,
and
[0039] (ii) administering to said subject a therapeutically or
prophylactically effective amount of one or more agents
counteracting the effects of the disease, such as TNF
inhibitors.
[0040] Another aspect of the invention is a method for identifying
a human who is likely to benefit from TNF inhibitor treatment, in
which the method comprises detecting an allele of one or more SNPs
disclosed herein in said human's nucleic acids, wherein the
presence of the allele indicates that said human is likely to
benefit from TNF inhibitor treatment.
[0041] Another aspect of the invention is a method for identifying
a human who is likely to benefit from TNF inhibitor treatment, in
which the method comprises detecting an allele of one or more SNPs
that are in LD with one or more SNPs disclosed herein in said
human's nucleic acids, wherein the presence of the allele of the LD
SNP indicates that said human is likely to benefit from TNF
inhibitor treatment.
[0042] Many other uses and advantages of the present invention will
be apparent to those skilled in the art upon review of the detailed
description of the preferred embodiments herein. Solely for clarity
of discussion, the invention is described in the sections below by
way of non-limiting examples.
[0043] Description of the Files Contained on the Cd-Rs
[0044] Each of the three CD-R5 contains an identical copy of each
the following three text files:
[0045] 1) File CD0000190RD_SEQLIST.txt provides the Sequence
Listing. The Sequence Listing provides the transcript sequences
(SEQ ID NOS:1-16) and protein sequences (SEQ ID NOS:17-32) as
referred to in Table 1, and genomic sequences (SEQ ID NOS:78-91) as
referred to in Table 2, for each autoimmune disease-associated gene
(or genomic region for intergenic SNPs) that contains one or more
SNPs of the present invention. Also provided in the Sequence
Listing are context sequences flanking each SNP, including both
transcript-based context sequences as referred to in Table 1 (SEQ
ID NOS:33-77) and genomic-based context sequences as referred to in
Table 2 (SEQ ID NOS:92-584). In addition, the Sequence Listing
provides the primer sequences from Table 3 (SEQ ID NOS:585-1004),
which are oligonucleotides that have been synthesized and used in
the laboratory to assay certain SNPs disclosed herein by
allele-specific PCR during the course of association studies to
verify the association of these SNPs with autoimmune disease. The
context sequences generally provide 100 bp upstream (5') and 100 bp
downstream (3') of each SNP, with the SNP in the middle of the
context sequence, for a total of 200 bp of context sequence
surrounding each SNP.
[0046] File CD0000190RD_SEQLIST.txt is 1,595 KB in size, and was
created on Aug. 29, 2008. In accordance with 37 C.F.R.
.sctn.1.821(f), the information recorded on each of the CDRs
submitted herewith is identical.
[0047] 2) File CD0000190RD_TABLE1.txt provides Table 1. File
CD0000190RD_TABLE1.txt is 51 KB in size, and was created on Aug.
28, 2008.
[0048] 3) File CD0000190RD_TABLE2.txt provides Table 2. File
CD0000190RD_TABLE2.txt is 390 KB in size, and was created on Aug.
29, 2008.
[0049] The material contained on the CD-R is hereby incorporated by
reference pursuant to 37 CFR 1.77(b)(4).
TABLE-US-00001 TABLES The patent application contains table(s) that
have been included at the end of the specification.
[0050] Description of Table 1 and Table 2
[0051] Table 1 and Table 2 (both provided on the CD-R) disclose the
SNP and associated gene/transcript/protein information of the
present invention. For each gene, Table 1 provides a header
containing gene, transcript and protein information, followed by a
transcript and protein sequence identifier (SEQ ID NO), and then
SNP information regarding each SNP found in that gene/transcript
including the transcript context sequence. For each gene in Table
2, a header is provided that contains gene and genomic information,
followed by a genomic sequence identifier (SEQ ID NO) and then SNP
information regarding each SNP found in that gene, including the
genomic context sequence.
[0052] Note that SNP markers may be included in both Table 1 and
Table 2; Table 1 presents the SNPs relative to their transcript
sequences and encoded protein sequences, whereas Table 2 presents
the SNPs relative to their genomic sequences. In some instances
Table 2 may also include, after the last gene sequence, genomic
sequences of one or more intergenic regions, as well as SNP context
sequences and other SNP information for any SNPs that lie within
these intergenic regions. Additionally, in either Table 1 or 2 a
"Related Interrogated SNP" may be listed following a SNP which is
determined to be in LD with that interrogated SNP according to the
given Power value. SNPs can be readily cross-referenced between all
Tables based on their Celera hCV (or, in some instances, hDV)
identification numbers and/or public rs identification numbers, and
to the Sequence Listing based on their corresponding SEQ ID
NOs.
[0053] The gene/transcript/protein information includes: [0054] a
gene number (1 through n, where n=the total number of genes in the
Table), [0055] a gene symbol, along with an Entrez gene
identification number (Entrez Gene database, National Center for
Biotechnology Information (NCBI), National Library of Medicine,
National Institutes of Health) [0056] a gene name, [0057] an
accession number for the transcript (e.g., RefSeq NM number, or a
Celera hCT identification number if no RefSeq NM number is
available) (Table 1 only), [0058] an accession number for the
protein (e.g., RefSeq NP number, or a Celera hCP identification
number if no RefSeq NP number is available) (Table 1 only), [0059]
the chromosome number of the chromosome on which the gene is
located, [0060] an OMIM ("Online Mendelian Inheritance in Man"
database, Johns Hopkins University/NCBI) public reference number
for the gene, and OMIM information such as alternative gene/protein
name(s) and/or symbol(s) in the OMIM entry.
[0061] Note that, due to the presence of alternative splice forms,
multiple transcript/protein entries may be provided for a single
gene entry in Table 1; i.e., for a single Gene Number, multiple
entries may be provided in series that differ in their
transcript/protein information and sequences.
[0062] Following the gene/transcript/protein information is a
transcript context sequence (Table 1), or a genomic context
sequence (Table 2), for each SNP within that gene.
[0063] After the last gene sequence, Table 2 may include additional
genomic sequences of intergenic regions (in such instances, these
sequences are identified as "Intergenic region:" followed by a
numerical identification number), as well as SNP context sequences
and other SNP information for any SNPs that lie within each
intergenic region (such SNPs are identified as "INTERGENIC" for SNP
type).
[0064] Note that the transcript, protein, and transcript-based SNP
context sequences are all provided in the Sequence Listing. The
transcript-based SNP context sequences are provided in both Table 1
and also in the Sequence Listing. The genomic and genomic-based SNP
context sequences are provided in the Sequence Listing. The
genomic-based SNP context sequences are provided in both Table 2
and in the Sequence Listing. SEQ ID NOs are indicated in Table 1
for the transcript-based context sequences (SEQ ID NOS:33-77); SEQ
ID NOs are indicated in Table 2 for the genomic-based context
sequences (SEQ ID NOS:92-584).
[0065] The SNP information includes: [0066] Context sequence (taken
from the transcript sequence in Table 1, the genomic sequence in
Table 2) with the SNP represented by its IUB code, including 100 bp
upstream (5') of the SNP position plus 100 bp downstream (3') of
the SNP position (the transcript-based SNP context sequences in
Table 1 are provided in the Sequence Listing as SEQ ID NOS:33-77;
the genomic-based SNP context sequences in Table 2 are provided in
the Sequence Listing as SEQ ID NOS:92-584). [0067] Celera hCV
internal identification number for the SNP (in some instances, an
"hDV" number is given instead of an "hCV" number). [0068] The
corresponding public identification number for the SNP, the rs
number. [0069] "SNP Chromosome Position" indicates the nucleotide
position of the SNP along the entire sequence of the chromosome as
provided in NCBI Genome Build 36. [0070] SNP position (nucleotide
position of the SNP within the given transcript sequence (Table 1)
or within the given genomic sequence (Table 2)). [0071] "Related
Interrogated SNP" is the interrogated SNP with which the listed SNP
is in LD at the given value of Power. [0072] SNP source (may
include any combination of one or more of the following five codes,
depending on which internal sequencing projects and/or public
databases the SNP has been observed in: "Applera"=SNP observed
during the re-sequencing of genes and regulatory regions of 39
individuals, "Celera"=SNP observed during shotgun sequencing and
assembly of the Celera human genome sequence, "Celera
Diagnostics"=SNP observed during re-sequencing of nucleic acid
samples from individuals who have a disease, "dbSNP"=SNP observed
in the dbSNP public database, "HGBASE"=SNP observed in the HGBASE
public database, "HGMD"=SNP observed in the Human Gene Mutation
Database (HGMD) public database, "HapMap"=SNP observed in the
International HapMap Project public database, "CSNP"=SNP observed
in an internal Applied Biosystems (Foster City, Calif.) database of
coding SNPS (cSNPs).
[0073] Note that multiple "Applera" source entries for a single SNP
indicate that the same SNP was covered by multiple overlapping
amplification products and the re-sequencing results (e.g.,
observed allele counts) from each of these amplification products
is being provided. [0074] Population/allele/allele count
information in the format of
[population1(first_allele,count|second_allele,count)population2-
(first_allele,count|second_allele,count) total (first_allele,total
count|second_allele,total count)]. The information in this field
includes populations/ethnic groups in which particular SNP alleles
have been observed ("cau"=Caucasian, "his"=Hispanic, "chn"=Chinese,
and "afr"=African-American, "jpn"=Japanese, "ind"=Indian,
"mex"=Mexican, "ain"="American Indian, "cra"=Celera donor,
"no_pop"=no population information available), identified SNP
alleles, and observed allele counts (within each population group
and total allele counts), where available ["-" in the allele field
represents a deletion allele of an insertion/deletion ("indel")
polymorphism (in which case the corresponding insertion allele,
which may be comprised of one or more nucleotides, is indicated in
the allele field on the opposite side of the "|"); "-" in the count
field indicates that allele count information is not available].
For certain SNPs from the public dbSNP database, population/ethnic
information is indicated as follows (this population information is
publicly available in dbSNP): "HISP1"=human individual DNA
(anonymized samples) from 23 individuals of self-described HISPANIC
heritage; "PAC1"=human individual DNA (anonymized samples) from 24
individuals of self-described PACIFIC RIM heritage; "CAUC1"=human
individual DNA (anonymized samples) from 31 individuals of
self-described CAUCASIAN heritage; "AFR1"=human individual DNA
(anonymized samples) from 24 individuals of self-described
AFRICAN/AFRICAN AMERICAN heritage; "P1"=human individual DNA
(anonymized samples) from 102 individuals of self-described
heritage; "PA130299515"; "SC.sub.--12_A"=SANGER 12 DNAs of Asian
origin from Corielle cell repositories, 6 of which are male and 6
female; "SC.sub.--12_C"=SANGER 12 DNAs of Caucasian origin from
Corielle cell repositories from the CEPH/UTAH library, six male and
six female; "SC.sub.--12_AA"=SANGER 12 DNAs of African-American
origin from Corielle cell repositories 6 of which are male and 6
female; "SC.sub.--95_C"=SANGER 95 DNAs of Caucasian origin from
Corielle cell repositories from the CEPH/UTAH library; and
"SC.sub.--12_CA"=Caucasians-12 DNAs from Corielle cell repositories
that are from the CEPH/UTAH library, six male and six female.
[0075] Note that for SNPs of "Applera" SNP source, genes/regulatory
regions of 39 individuals (20 Caucasians and 19 African Americans)
were re-sequenced and, since each SNP position is represented by
two chromosomes in each individual (with the exception of SNPs on X
and Y chromosomes in males, for which each SNP position is
represented by a single chromosome), up to 78 chromosomes were
genotyped for each SNP position. Thus, the sum of the
African-American ("afr") allele counts is up to 38, the sum of the
Caucasian allele counts ("cau") is up to 40, and the total sum of
all allele counts is up to 78.
[0076] Note that semicolons separate population/allele/count
information corresponding to each indicated SNP source; i.e., if
four SNP sources are indicated, such as "Celera," "dbSNP,"
"HGBASE," and "HGMD," then population/allele/count information is
provided in four groups which are separated by semicolons and
listed in the same order as the listing of SNP sources, with each
population/allele/count information group corresponding to the
respective SNP source based on order; thus, in this example, the
first population/allele/count information group would correspond to
the first listed SNP source (Celera) and the third
population/allele/count information group separated by semicolons
would correspond to the third listed SNP source (HGBASE); if
population/allele/count information is not available for any
particular SNP source, then a pair of semicolons is still inserted
as a place-holder in order to maintain correspondence between the
list of SNP sources and the corresponding listing of
population/allele/count information. [0077] SNP type (e.g.,
location within gene/transcript and/or predicted functional effect)
["MIS-SENSE MUTATION"=SNP causes a change in the encoded amino acid
(i.e., a non-synonymous coding SNP); "SILENT MUTATION"=SNP does not
cause a change in the encoded amino acid (i.e., a synonymous coding
SNP); "STOP CODON MUTATION"=SNP is located in a stop codon;
"NONSENSE MUTATION"=SNP creates or destroys a stop codon; "UTR
5"=SNP is located in a 5' UTR of a transcript; "UTR 3"=SNP is
located in a 3' UTR of a transcript; "PUTATIVE UTR 5"=SNP is
located in a putative 5' UTR; "PUTATIVE UTR 3"=SNP is located in a
putative 3' UTR; "DONOR SPLICE SITE"=SNP is located in a donor
splice site (5' intron boundary); "ACCEPTOR SPLICE SITE"=SNP is
located in an acceptor splice site (3' intron boundary); "CODING
REGION"=SNP is located in a protein-coding region of the
transcript; "EXON"=SNP is located in an exon; "INTRON"=SNP is
located in an intron; "hmCS"=SNP is located in a human-mouse
conserved segment; "TFBS"=SNP is located in a transcription factor
binding site; "UNKNOWN"=SNP type is not defined; "INTERGENIC"=SNP
is intergenic, i.e., outside of any gene boundary]. [0078] Protein
coding information (Table 1 only), where relevant, in the format of
[protein SEQ ID NO, amino acid position, (amino acid-1, codon1)
(amino acid-2, codon2)]. The information in this field includes SEQ
ID NO of the encoded protein sequence, position of the amino acid
residue within the protein identified by the SEQ ID NO that is
encoded by the codon containing the SNP, amino acids (represented
by one-letter amino acid codes) that are encoded by the alternative
SNP alleles (in the case of stop codons, "X" is used for the
one-letter amino acid code), and alternative codons containing the
alternative SNP nucleotides which encode the amino acid residues
(thus, for example, for missense mutation-type SNPs, at least two
different amino acids and at least two different codons are
generally indicated; for silent mutation-type SNPs, one amino acid
and at least two different codons are generally indicated, etc.).
In instances where the SNP is located outside of a protein-coding
region (e.g., in a UTR region), "None" is indicated following the
protein SEQ ID NO.
[0079] Description of Table 3
[0080] Table 3 provides sequences (SEQ ID NOS:585-1004) of primers
that may be used to assay the SNPs disclosed herein by
allele-specific PCR or other methods, such as for uses related to
autoimmune disease, particularly RA (see Examples section).
[0081] Table 3 provides the following: [0082] the column labeled
"Marker" provides an hCV identification number for each SNP that
can be detected using the corresponding primers. [0083] the column
labeled "Alleles" designates the two alternative alleles (i.e.,
nucleotides) at the SNP site. These alleles are targeted by the
allele-specific primers (the allele-specific primers are shown as
Primer 1 and Primer 2). Note that alleles may be presented in Table
3 based on a different orientation (i.e., the reverse complement)
relative to how the same alleles are presented in Tables 1-2.
[0084] the column labeled "Primer 1 (Allele-Specific Primer)"
provides an allele-specific primer that is specific for an allele
designated in the "Alleles" column. [0085] the column labeled
"Primer 2 (Allele-Specific Primer)" provides an allele-specific
primer that is specific for the other allele designated in the
"Alleles" column. [0086] the column labeled "Common Primer"
provides a common primer that is used in conjunction with each of
the allele-specific primers (i.e., Primer 1 and Primer 2) and which
hybridizes at a site away from the SNP position.
[0087] All primer sequences are given in the 5' to 3'
direction.
[0088] Each of the nucleotides designated in the "Alleles" column
matches or is the reverse complement of (depending on the
orientation of the primer relative to the designated allele) the 3'
nucleotide of the allele-specific primer (i.e., either Primer 1 or
Primer 2) that is specific for that allele.
[0089] Description of Table 4
[0090] Table 4 provides a list of LD SNPs that are related to and
derived from certain interrogated SNPs. The interrogated SNPs,
which are shown in column 1 (which indicates the hCV identification
numbers of each interrogated SNP) and column 2 (which indicates the
public rs identification numbers of each interrogated SNP) of Table
4, are statistically significantly associated with autoimmune
disease, especially RA, as described and shown herein, particularly
in Tables 5-16 and in the Examples section below. The LD SNPs are
provided as an example of SNPs which can also serve as markers for
disease association based on their being in LD with an interrogated
SNP. The criteria and process of selecting such LD SNPs, including
the calculation of the r.sup.2 value and the threshold r.sup.2
value, are described in Example 2, below.
[0091] In Table 4, the column labeled "Interrogated SNP" presents
each marker as identified by its unique hCV identification number.
The column labeled "Interrogated rs" presents the publicly known rs
identification number for the corresponding hCV number. The column
labeled "LD SNP" presents the hCV numbers of the LD SNPs that are
derived from their corresponding interrogated SNPs. The column
labeled "LD SNP rs" presents the publicly known rs identification
number for the corresponding hCV number. The column labeled "Power"
presents the level of power where the r.sup.2 threshold is set. For
example, when power is set at 0.51, the threshold r.sup.2 value
calculated therefrom is the minimum r.sup.2 that an LD SNP must
have in reference to an interrogated SNP, in order for the LD SNP
to be classified as a marker capable of being associated with a
disease phenotype at greater than 51% probability. The column
labeled "Threshold r.sup.2" presents the minimum value of r.sup.2
that an LD SNP must meet in reference to an interrogated SNP in
order to qualify as an LD SNP. The column labeled "r.sup.2"
presents the actual r.sup.2 value of the LD SNP in reference to the
interrogated SNP to which it is related.
[0092] Description of Tables 5-16
[0093] Tables 5-16 provide the results of statistical analyses for
SNPs disclosed in Tables 1 and 2 (SNPs can be cross-referenced
between all the tables herein based on their hCV and/or rs
identification numbers). The results shown in Tables 5-16 provide
support for the association of these SNPs with autoimmune disease,
particularly RA.
[0094] Tables 5, 6, and 7 provide minor allele frequencies and
allele-based association of chromosome 9q33 SNPs with RA for Sample
Set 1 (Table 5), Sample Set 2 (Table 6), and Sample Set 3 (Table
7).
[0095] Table 8 provides demographic and clinical information for
Sample Sets 1, 2, and 3.
[0096] Table 9 provides results of combined analysis of 43
chromosome 9q33.2 SNPs genotyped in all three RA sample sets.
[0097] Table 10 provides three-SNP haplotypes for LD Block 1.
[0098] Table 11 provides diplotype analysis for the TRAF1-region
SNPs rs2239657, rs7021880, and rs7021049.
[0099] Table 12 provides genotype counts for rs2239657, rs7021880,
and rs7021049, stratified by the presence of rheumatoid factor.
[0100] Table 13 provides results of pairwise logistic regression
analysis for 27 chromosome 9q33.2 SNPs.
[0101] Table 14 provides global P-values for backwards and forwards
models using logistic regression.
[0102] Table 15 provides RA risk estimates for three loci-HLA-SE,
PTPN22, and TRAF1-assuming a disease prevalence of 1%, 10% and
30%.
[0103] Table 16 provides HapMap SNPs in high linkage disequilibrium
(r.sup.2>0.85) with rs7021049 and rs2239657.
[0104] Throughout Tables 5-16, "OR" refers to the odds ratio, "95%
CI" refers to the 95% confidence interval for the odds ratio, and
OR.sub.common and P.sub.comb refer to the odds ratio and p-value,
respectively, from a combined analysis. Odds ratios (OR) that are
greater than one indicate that a given allele (or combination of
alleles such as a haplotype or diplotype) is a risk allele (which
may also be referred to as a susceptibility allele), whereas odds
ratios or hazard ratios that are less than one indicate that a
given allele is a non-risk allele (which may also be referred to as
a protective allele). For a given risk allele, the other
alternative allele at the SNP position (which can be derived from
the information provided in Tables 1-2, for example) may be
considered a non-risk allele. For a given non-risk allele, the
other alternative allele at the SNP position may be considered a
risk allele.
[0105] Thus, with respect to disease risk (e.g., autoimmune disease
such as RA), if the odds ratio for a particular allele at a SNP
position is greater than one, this indicates that an individual
with this particular allele has a higher risk for the disease than
an individual who has the other allele at the SNP position. In
contrast, if the odds ratio for a particular allele is less than
one, this indicates that an individual with this particular allele
has a reduced risk for the disease compared with an individual who
has the other allele at the SNP position.
DESCRIPTION OF THE FIGURE
[0106] FIG. 1 shows the relative risk for RA plotted as a function
of the genetic load of three validated RA risk variants in
HLA-DRB1, PTPN22 and TRAF1. Individuals are classified according to
the number of copies of the HLA-DRB1 shared epitope (0, 1 and 2)
(SE-positive HLA-DRB1 alleles found in this sample set were: 0101,
0102, 0401, 0404, 0405, 0408 and 1001), carriage of the W620 PTPN22
missense SNP (TT+CT vs CC) and diplotypes at the TRAF1 SNPs,
rs2239657, rs2021880 and rs7021049. The frequency of each
combination of markers in cases and controls is indicated atop each
bar.
DETAILED DESCRIPTION OF THE INVENTION
[0107] The present invention provides SNPs associated with
autoimmune disease, particularly rheumatoid arthritis (RA). The
present invention further provides nucleic acid molecules
containing these SNPs, methods and reagents for the detection of
the SNPs disclosed herein, uses of these SNPs for the development
of detection reagents, and assays or kits that utilize such
reagents. The SNPs disclosed herein are useful for diagnosing,
prognosing, screening for, and evaluating predisposition to
autoimmune disease and related pathologies in humans. The SNPs
disclosed herein may be used for predicting, screening for, and
evaluating response to tumor necrosis factor (TNF) inhibitors,
particularly treatment or prevention of autoimmune disease using
TNF inhibitors, in humans. Furthermore, such SNPs and their encoded
products are useful targets for the development of therapeutic and
preventive agents.
[0108] A large number of SNPs have been identified from
re-sequencing DNA from 39 individuals, and they are indicated as
"Applera" SNP source in Tables 1-2. Their allele frequencies
observed in each of the Caucasian and African-American ethnic
groups are provided. Additional SNPs included herein were
previously identified during "shotgun" sequencing and assembly of
the human genome, and they are indicated as "Celera" SNP source in
Tables 1 and 2. Furthermore, the information provided in Tables 1
and 2, particularly the allele frequency information obtained from
39 individuals and the identification of the precise position of
each SNP within each gene/transcript, allows haplotypes (i.e.,
groups of SNPs that are co-inherited) to be readily inferred. The
present invention encompasses SNP haplotypes, as well as individual
SNPs.
[0109] Thus, the present invention provides individual SNPs
associated with autoimmune disease (particularly RA), as well as
combinations of SNPs and haplotypes, polymorphic/variant transcript
sequences (SEQ ID NOS:1-16) and genomic sequences (SEQ ID
NOS:78-91) containing SNPs, encoded amino acid sequences (SEQ ID
NOS:17-32), and both transcript-based SNP context sequences (SEQ ID
NOS:33-77) and genomic-based SNP context sequences (SEQ ID
NOS:92-584) (transcript sequences, protein sequences, and
transcript-based SNP context sequences are provided in Table 1 and
the Sequence Listing; genomic sequences and genomic-based SNP
context sequences are provided in Table 2 and the Sequence
Listing), methods of detecting these polymorphisms in a test
sample, methods of determining the risk of an individual of having
or developing autoimmune disease, methods of determining if an
individual is likely to respond to a particular treatment such as
TNF inhibitors (particularly for treating or preventing autoimmune
disease), methods of screening for compounds useful for treating
disorders associated with a variant gene/protein such as autoimmune
disease, compounds identified by these screening methods, methods
of using the disclosed SNPs to select a treatment/preventive
strategy or therapeutic agent, methods of treating or preventing a
disorder associated with a variant gene/protein, and methods of
using the SNPs of the present invention for human
identification.
[0110] The present invention further provides methods for selecting
or formulating a treatment regimen (e.g., methods for determining
whether or not to administer a TNF inhibitor to an individual
having autoimmune disease, or who is at risk for developing
autoimmune disease in the future, or who has previously had
autoimmune disease, methods for selecting a particular TNF
inhibitor-based treatment regimen such as dosage and frequency of
administration of TNF inhibitor, or a particular form/type of TNF
inhibitor such as a particular antibody, fusion protein, small
molecule compound, nucleic acid agent, pharmaceutical formulation,
etc., methods for administering an alternative, non-TNF inhibitor
treatment to individuals who are predicted to be unlikely to
respond positively to TNF inhibitor treatment, etc.), and methods
for determining the likelihood of experiencing toxicity or other
undesirable side effects from TNF inhibitor treatment, etc. The
present invention also provides methods for selecting individuals
to whom a TNF inhibitor or other therapeutic will be administered
based on the individual's genotype, and methods for selecting
individuals for a clinical trial of a TNF inhibitor or other
therapeutic agent based on the genotypes of the individuals (e.g.,
selecting individuals to participate in the trial who are most
likely to respond positively from the TNF inhibitor treatment
and/or excluding individuals from the trial who are unlikely to
respond positively from the TNF inhibitor treatment based on their
SNP genotype(s), or selecting individuals who are unlikely to
respond positively to TNF inhibitors based on their SNP genotype(s)
to participate in a clinical trial of another type of drug that may
benefit them).
[0111] The present invention may include novel SNPs associated with
autoimmune disease, particularly RA, as well as SNPs that were
previously known in the art, but were not previously known to be
associated with autoimmune disease such as RA. Accordingly, the
present invention may provide novel compositions and methods based
on novel SNPs disclosed herein, and may also provide novel methods
of using known, but previously unassociated, SNPs in methods
relating to, for example, evaluating an individual's likelihood of
having or developing autoimmune disease (particularly RA),
predicting the likelihood of an individual experiencing a
recurrence of autoimmune disease (e.g., experiencing recurrent RA),
prognosing the severity of autoimmune disease in an individual, or
prognosing an individual's recovery from autoimmune disease, and
methods relating to evaluating an individual's likelihood of
responding to TNF inhibitor treatment (particularly TNF inhibitor
treatment, including preventive treatment, of autoimmune disease).
In Tables 1 and 2, known SNPs are identified based on the public
database in which they have been observed, which is indicated as
one or more of the following SNP types: "dbSNP".dbd.SNP observed in
dbSNP, "HGBASE".dbd.SNP observed in HGBASE, and "HGMD".dbd.SNP
observed in the Human Gene Mutation Database (HGMD).
[0112] Particular SNP alleles of the present invention can be
associated with either an increased risk of having or developing
autoimmune disease (e.g., RA) or increased likelihood of responding
to a treatment (particularly TNF inhibitor treatment, including
preventive treatment, of autoimmune disease), or a decreased risk
of having or developing autoimmune disease or decreased likelihood
of responding to a treatment (such as a TNF inhibitor). Thus,
whereas certain SNPs (or their encoded products) can be assayed to
determine whether an individual possesses a SNP allele that is
indicative of an increased risk of having or developing autoimmune
disease (e.g., RA) or increased likelihood of responding to TNF
inhibitor treatment, other SNPs (or their encoded products) can be
assayed to determine whether an individual possesses a SNP allele
that is indicative of a decreased risk of having or developing
autoimmune disease or decreased likelihood of responding to TNF
inhibitor treatment. Similarly, particular SNP alleles of the
present invention can be associated with either an increased or
decreased likelihood of having a recurrence of autoimmune disease
(e.g., recurrent RA), of fully recovering from autoimmune disease,
of experiencing toxic effects from a particular treatment or
therapeutic compound, etc. The term "altered" may be used herein to
encompass either of these two possibilities (e.g., an increased or
a decreased risk/likelihood). SNP alleles that are associated with
a decreased risk of having or developing autoimmune disease (such
as RA) may be referred to as "protective" alleles, and SNP alleles
that are associated with an increased risk of having or developing
autoimmune disease may be referred to as "susceptibility" alleles,
"risk" alleles, or "risk factors".
[0113] Those skilled in the art will readily recognize that nucleic
acid molecules may be double-stranded molecules and that reference
to a particular site on one strand refers, as well, to the
corresponding site on a complementary strand. In defining a SNP
position, SNP allele, or nucleotide sequence, reference to an
adenine, a thymine (uridine), a cytosine, or a guanine at a
particular site on one strand of a nucleic acid molecule also
defines the thymine (uridine), adenine, guanine, or cytosine
(respectively) at the corresponding site on a complementary strand
of the nucleic acid molecule. Thus, reference may be made to either
strand in order to refer to a particular SNP position, SNP allele,
or nucleotide sequence. Probes and primers, may be designed to
hybridize to either strand and SNP genotyping methods disclosed
herein may generally target either strand. Throughout the
specification, in identifying a SNP position, reference is
generally made to the protein-encoding strand, only for the purpose
of convenience.
[0114] References to variant peptides, polypeptides, or proteins of
the present invention include peptides, polypeptides, proteins, or
fragments thereof, that contain at least one amino acid residue
that differs from the corresponding amino acid sequence of the
art-known peptide/polypeptide/protein (the art-known protein may be
interchangeably referred to as the "wild-type," "reference," or
"normal" protein). Such variant peptides/polypeptides/proteins can
result from a codon change caused by a nonsynonymous nucleotide
substitution at a protein-coding SNP position (i.e., a missense
mutation) disclosed by the present invention. Variant
peptides/polypeptides/proteins of the present invention can also
result from a nonsense mutation (i.e., a SNP that creates a
premature stop codon, a SNP that generates a read-through mutation
by abolishing a stop codon), or due to any SNP disclosed by the
present invention that otherwise alters the structure, function,
activity, or expression of a protein, such as a SNP in a regulatory
region (e.g. a promoter or enhancer) or a SNP that leads to
alternative or defective splicing, such as a SNP in an intron or a
SNP at an exon/intron boundary. As used herein, the terms
"polypeptide," "peptide," and "protein" are used
interchangeably.
[0115] As used herein, an "allele" may refer to a nucleotide at a
SNP position (wherein at least two alternative nucleotides are
present in the population at the SNP position, in accordance with
the inherent definition of a SNP) or may refer to an amino acid
residue that is encoded by the codon which contains the SNP
position (where the alternative nucleotides that are present in the
population at the SNP position form alternative codons that encode
different amino acid residues). An "allele" may also be referred to
herein as a "variant". Also, an amino acid residue that is encoded
by a codon containing a particular SNP may simply be referred to as
being encoded by the SNP.
[0116] A phrase such as "as represented by", "as shown by", "as
symbolized by", or "as designated by" may be used herein to refer
to a SNP within a sequence (e.g., a polynucleotide context sequence
surrounding a SNP), such as in the context of "a polymorphism as
represented by position 101 of SEQ ID NO:X or its complement".
Typically, the sequence surrounding a SNP may be recited when
referring to a SNP, however the sequence is not intended as a
structural limitation beyond the specific SNP position itself.
Rather, the sequence is recited merely as a way of referring to the
SNP (in this example, "SEQ ID NO:X or its complement" is recited in
order to refer to the SNP located at position 101 of SEQ ID NO:X,
but SEQ ID NO:X or its complement is not intended as a structural
limitation beyond the specific SNP position itself). A SNP is a
variation at a single nucleotide position and therefore it is
customary to refer to context sequence (e.g., SEQ ID NO:X in this
example) surrounding a particular SNP position in order to uniquely
identify and refer to the SNP. Alternatively, a SNP can be referred
to by a unique identification number such as a public "rs"
identification number or an internal "hCV" identification number,
such as provided herein for each SNP (e.g., in Tables 1-2). For
example, in the instant application, "rs2239657", "hCV16175379",
and "position 101 of SEQ ID NO:526" all refer to the same SNP.
[0117] As used herein, the term "benefit" (with respect to a
preventive or therapeutic drug treatment) is defined as achieving a
reduced risk for a disease that the drug is intended to treat or
prevent (e.g., autoimmune disease such as RA) by administrating the
drug treatment, compared with the risk for the disease in the
absence of receiving the drug treatment (or receiving a placebo in
lieu of the drug treatment) for the same genotype. The term
"benefit" may be used herein interchangeably with terms such as
"respond positively" or "positively respond".
[0118] As used herein, the terms "drug" and "therapeutic agent" are
used interchangeably, and may include, but are not limited to,
small molecule compounds, biologics (e.g., antibodies, proteins,
protein fragments, fusion proteins, glycoproteins, etc.), nucleic
acid agents (e.g., antisense, RNAi/siRNA, and microRNA molecules,
etc.), vaccines, etc., which may be used for therapeutic and/or
preventive treatment of a disease (e.g., autoimmune disease such as
RA).
[0119] As used herein, "related pathologies" (e.g., in the context
of "autoimmune disease and related pathologies") includes
inflammatory disorders.
[0120] The various methods described herein, such as correlating
the presence or absence of a polymorphism with an altered (e.g.,
increased or decreased) risk (or no altered risk) for autoimmune
disease such as RA (and/or correlating the presence or absence of a
polymorphism with the predicted response of an individual to a drug
such as a TNF inhibitor), can be carried out by automated methods
such as by using a computer (or other apparatus/devices such as
biomedical devices, laboratory instrumentation, or other
apparatus/devices having a computer processor) programmed to carry
out any of the methods described herein. For example, computer
software (which may be interchangeably referred to herein as a
computer program) can perform the step of correlating the presence
or absence of a polymorphism in an individual with an altered
(e.g., increased or decreased) risk (or no altered risk) for
autoimmune disease (particularly RA) for the individual. Computer
software can also perform the step of correlating the presence or
absence of a polymorphism in an individual with the predicted
response of the individual to a drug such as a TNF inhibitor.
[0121] Therapeutics and Pharmacogenomics in Autoimmune Disease
[0122] Exemplary embodiments of the invention provide SNPs in (or
in the vicinity of) TRAF1 and other genes (e.g., PHF19 and C5) that
are associated with RA (as shown in the tables and described in the
Examples section below, for example). These SNPs have a variety of
therapeutic and pharmacogenomic uses related to the treatment of
RA, as well as other autoimmune (and inflammatory) disorders. The
RA-associated SNPs provided herein may be used, for example, to
determine variability between different individuals in their
response to RA therapy or other autoimmune (or inflammatory)
disease therapy such as to predict whether an individual will
respond positively to a particular therapy, to determine the most
effective therapeutic agent (e.g., antibody, therapeutic protein or
fusion protein, small molecule compound, nucleic acid agent, etc.)
to use to treat an individual, to determine whether a particular
therapeutic agent should or should not be administered to an
individual (e.g., by predicting whether the individual is likely to
positively respond to the therapy or by predicting whether the
individual will experience toxic or other undesirable side effects
or is unlikely to respond to the therapy), or to determine the
therapeutic regimen to use for an individual such as the dosage or
frequency of dosing of a therapeutic agent for a particular
individual.
[0123] TNF inhibitors are an example of therapeutic agents for the
treatment of RA or other autoimmune (or inflammatory) disorders
which the SNPs provided herein can be used in conjunction with
(e.g., to predict an individual's responsiveness). For example,
TRAF1 SNP alleles disclosed herein may be associated with
variability between individuals in their response to TNF
inhibitors. Examples of TNF inhibitors include, but are not limited
to, the monoclonal antibodies infliximab (Remicade.RTM.),
adalimumab (Humira.RTM.), and golimumab (CNTO 148), and the fusion
protein etanercept (Enbrel.RTM.).
[0124] Therapeutic agents that directly modulate (e.g., inhibit or
stimulate) TRAF1 (or other TRAF proteins, or any of the other
RA-associated genes disclosed herein such as PHF19 and C5) may be
used to treat RA or other autoimmune/inflammatory disorders and,
furthermore, therapeutic agents that target proteins that interact
with TRAF1 or are otherwise in TRAF1 pathways may be used to
indirectly modulate TRAF1 to thereby treat RA or other
autoimmune/inflammatory disorders. Therapeutic agents such as these
may be used in conjunction with the SNPs provided herein.
[0125] As an example, the RA-associated SNPs provided herein may be
used to predict whether an individual will respond positively to
TNF inhibitor therapy and/or to determine an effective dosage of
this therapy. This facilitates decision making by medical
practitioners, such as in deciding whether to administer this
therapy to a particular individual or select another therapy that
may be better suited to the individual, or to use a particular
dosage, dosing schedule, or to modify other aspects of a
therapeutic regimen to effectively treat the individual, for
example.
[0126] In addition to medical treatment, these uses may also be
applied, for example, in the context of clinical trials of a
therapeutic agent (e.g., a therapeutic agent that targets TRAF1 or
other TRAF protein, PHF19, or C5 for the treatment of RA or other
autoimmune/inflammatory disorders), such as to include particular
individuals in a clinical trial who are predicted to positively
respond to the therapeutic agent based on the SNPs provided herein
and/or to exclude particular individuals from a clinical trial who
are predicted to not positively respond to the therapeutic agent
based on the SNPs provided herein (and/or to include these
particular individuals who are predicted to not positively respond
to the therapeutic agent in a clinical trial for another
therapeutic agent which they may benefit from). By using the SNPs
provided herein to target a therapeutic agent to individuals who
are more likely to positively respond to the agent, the therapeutic
agent is more likely to succeed in clinical trials by showing
positive efficacy and to therefore satisfy the FDA requirements for
approval. Additionally, individuals who are more likely to
experience toxic or other undesirable side effects may be excluded
from being administered the therapeutic agent. Furthermore, by
using the SNPs provided herein to determine an effective dosage or
dosing frequency, for example, the therapeutic agent may be less
likely to exhibit toxicity or other undesirable side effects, as
well as more likely to achieve positive efficacy.
[0127] Reports, Transmission of Reports, Programmed Computers, and
Business Methods
[0128] The results of a test (e.g., an individual's risk for
autoimmune disease such as RA, or an individual's predicted drug
responsiveness, based on assaying one or more SNPs disclosed
herein, and/or an individual's allele(s)/genotype at one or more
SNPs disclosed herein, etc.), and/or any other information
pertaining to a test, may be referred to herein as a "report". A
tangible report can optionally be generated as part of a testing
process (which may be interchangeably referred to herein as
"reporting", or as "providing" a report, "producing" a report, or
"generating" a report).
[0129] Examples of tangible reports may include, but are not
limited to, reports in paper (such as computer-generated printouts
of test results) or equivalent formats and reports stored on
computer readable medium (such as a CD, USB flash drive or other
removable storage device, computer hard drive, or computer network
server, etc.). Reports, particularly those stored on computer
readable medium, can be part of a database, which may optionally be
accessible via the internet (such as a database of patient records
or genetic information stored on a computer network server, which
may be a "secure database" that has security features that limit
access to the report, such as to allow only the patient and the
patient's medical practitioners to view the report while preventing
other unauthorized individuals from viewing the report, for
example). In addition to, or as an alternative to, generating a
tangible report, reports can also be displayed on a computer screen
(or the display of another electronic device or instrument).
[0130] A report can include, for example, an individual's risk for
autoimmune disease, such as RA, or may just include the
allele(s)/genotype that an individual carries at one or more SNPs
disclosed herein, which may optionally be linked to information
regarding the significance of having the allele(s)/genotype at the
SNP (for example, a report on computer readable medium such as a
network server may include hyperlink(s) to one or more journal
publications or web sites that describe the medical/biological
implications, such as increased or decreased disease risk, for
individuals having a certain allele/genotype at the SNP). Thus, for
example, the report can include disease risk or other
medical/biological significance (e.g., drug responsiveness, etc.)
as well as optionally also including the allele/genotype
information, or the report may just include allele/genotype
information without including disease risk or other
medical/biological significance (such that an individual viewing
the report can use the allele/genotype information to determine the
associated disease risk or other medical/biological significance
from a source outside of the report itself, such as from a medical
practitioner, publication, website, etc., which may optionally be
linked to the report such as by a hyperlink).
[0131] A report can further be "transmitted" or "communicated"
(these terms may be used herein interchangeably), such as to the
individual who was tested, a medical practitioner (e.g., a doctor,
nurse, clinical laboratory practitioner, genetic counselor, etc.),
a healthcare organization, a clinical laboratory, and/or any other
party or requester intended to view or possess the report. The act
of "transmitting" or "communicating" a report can be by any means
known in the art, based on the format of the report. Furthermore,
"transmitting" or "communicating" a report can include delivering a
report ("pushing") and/or retrieving ("pulling") a report. For
example, reports can be transmitted/communicated by various means,
including being physically transferred between parties (such as for
reports in paper format) such as by being physically delivered from
one party to another, or by being transmitted electronically or in
signal form (e.g., via e-mail or over the internet, by facsimile,
and/or by any wired or wireless communication methods known in the
art) such as by being retrieved from a database stored on a
computer network server, etc.
[0132] In certain exemplary embodiments, the invention provides
computers (or other apparatus/devices such as biomedical devices or
laboratory instrumentation) programmed to carry out the methods
described herein. For example, in certain embodiments, the
invention provides a computer programmed to receive (i.e., as
input) the identity (e.g., the allele(s) or genotype at a SNP) of
one or more SNPs disclosed herein and provide (i.e., as output) the
disease risk (e.g., an individual's risk for autoimmune disease
such as RA) or other result (e.g., disease diagnosis or prognosis,
drug responsiveness, etc.) based on the identity of the SNP(s).
Such output (e.g., communication of disease risk, disease diagnosis
or prognosis, drug responsiveness, etc.) may be, for example, in
the form of a report on computer readable medium, printed in paper
form, and/or displayed on a computer screen or other display.
[0133] In various exemplary embodiments, the invention further
provides methods of doing business (with respect to methods of
doing business, the terms "individual" and "customer" are used
herein interchangeably). For example, exemplary methods of doing
business can comprise assaying one or more SNPs disclosed herein
and providing a report that includes, for example, a customer's
risk for autoimmune disease such as RA (based on which
allele(s)/genotype is present at the assayed SNP(s)) and/or that
includes the allele(s)/genotype at the assayed SNP(s) which may
optionally be linked to information (e.g., journal publications,
websites, etc.) pertaining to disease risk or other
biological/medical significance such as by means of a hyperlink
(the report may be provided, for example, on a computer network
server or other computer readable medium that is
internet-accessible, and the report may be included in a secure
database that allows the customer to access their report while
preventing other unauthorized individuals from viewing the report),
and optionally transmitting the report. Customers (or another party
who is associated with the customer, such as the customer's doctor,
for example) can request/order (e.g., purchase) the test online via
the internet (or by phone, mail order, at an outlet/store, etc.),
for example, and a kit can be sent/delivered (or otherwise
provided) to the customer (or another party on behalf of the
customer, such as the customer's doctor, for example) for
collection of a biological sample from the customer (e.g., a buccal
swab for collecting buccal cells), and the customer (or a party who
collects the customer's biological sample) can submit their
biological samples for assaying (e.g., to a laboratory or party
associated with the laboratory such as a party that accepts the
customer samples on behalf of the laboratory, a party for whom the
laboratory is under the control of (e.g., the laboratory carries
out the assays by request of the party or under a contract with the
party, for example), and/or a party that receives at least a
portion of the customer's payment for the test). The report (e.g.,
results of the assay including, for example, the customer's disease
risk and/or allele(s)/genotype at the assayed SNP(s)) may be
provided to the customer by, for example, the laboratory that
assays the SNP(s) or a party associated with the laboratory (e.g.,
a party that receives at least a portion of the customer's payment
for the assay, or a party that requests the laboratory to carry out
the assays or that contracts with the laboratory for the assays to
be carried out) or a doctor or other medical practitioner who is
associated with (e.g., employed by or having a consulting or
contracting arrangement with) the laboratory or with a party
associated with the laboratory, or the report may be provided to a
third party (e.g., a doctor, genetic counselor, hospital, etc.)
which optionally provides the report to the customer. In further
embodiments, the customer may be a doctor or other medical
practitioner, or a hospital, laboratory, medical insurance
organization, or other medical organization that requests/orders
(e.g., purchases) tests for the purposes of having other
individuals (e.g., their patients or customers) assayed for one or
more SNPs disclosed herein and optionally obtaining a report of the
assay results.
[0134] In certain exemplary methods of doing business, kits for
collecting a biological sample from a customer (e.g., a buccal swab
for collecting buccal cells) are provided (e.g., for sale), such as
at an outlet (e.g., a drug store, pharmacy, general merchandise
store, or any other desirable outlet), online via the internet, by
mail order, etc., whereby customers can obtain (e.g., purchase) the
kits, collect their own biological samples, and submit (e.g.,
send/deliver via mail) their samples to a laboratory which assays
the samples for one or more SNPs disclosed herein (such as to
determine the customer's risk for autoimmune disease such as RA)
and optionally provides a report to the customer (of the customer's
disease risk based on their SNP genotype(s), for example) or
provides the results of the assay to another party (e.g., a doctor,
genetic counselor, hospital, etc.) which optionally provides a
report to the customer (of the customer's disease risk based on
their SNP genotype(s), for example).
[0135] Isolated Nucleic Acid Molecules and SNP Detection Reagents
& Kits
[0136] Tables 1 and 2 provide a variety of information about each
SNP of the present invention that is associated with autoimmune
disease (particularly RA), including the transcript sequences (SEQ
ID NOS:1-16), genomic sequences (SEQ ID NOS:78-91), and protein
sequences (SEQ ID NOS:17-32) of the encoded gene products (with the
SNPs indicated by IUB codes in the nucleic acid sequences). In
addition, Tables 1 and 2 include SNP context sequences, which
generally include 100 nucleotide upstream (5') plus 100 nucleotides
downstream (3') of each SNP position (SEQ ID NOS:33-77 correspond
to transcript-based SNP context sequences disclosed in Table 1, and
SEQ ID NOS:92-584 correspond to genomic-based context sequences
disclosed in Table 2), the alternative nucleotides (alleles) at
each SNP position, and additional information about the variant
where relevant, such as SNP type (coding, missense, splice site,
UTR, etc.), human populations in which the SNP was observed,
observed allele frequencies, information about the encoded protein,
etc.
[0137] Isolated Nucleic Acid Molecules
[0138] The present invention provides isolated nucleic acid
molecules that contain one or more SNPs disclosed Table 1 and/or
Table 2. Isolated nucleic acid molecules containing one or more
SNPs disclosed in at least one of Tables 1 and 2 may be
interchangeably referred to throughout the present text as
"SNP-containing nucleic acid molecules." Isolated nucleic acid
molecules may optionally encode a full-length variant protein or
fragment thereof. The isolated nucleic acid molecules of the
present invention also include probes and primers (which are
described in greater detail below in the section entitled "SNP
Detection Reagents"), which may be used for assaying the disclosed
SNPs, and isolated full-length genes, transcripts, cDNA molecules,
and fragments thereof, which may be used for such purposes as
expressing an encoded protein.
[0139] As used herein, an "isolated nucleic acid molecule"
generally is one that contains a SNP of the present invention or
one that hybridizes to such molecule such as a nucleic acid with a
complementary sequence, and is separated from most other nucleic
acids present in the natural source of the nucleic acid molecule.
Moreover, an "isolated" nucleic acid molecule, such as a cDNA
molecule containing a SNP of the present invention, can be
substantially free of other cellular material, or culture medium
when produced by recombinant techniques, or chemical precursors or
other chemicals when chemically synthesized. A nucleic acid
molecule can be fused to other coding or regulatory sequences and
still be considered "isolated." Nucleic acid molecules present in
non-human transgenic animals, which do not naturally occur in the
animal, are also considered "isolated." For example, recombinant
DNA molecules contained in a vector are considered "isolated."
Further examples of "isolated" DNA molecules include recombinant
DNA molecules maintained in heterologous host cells, and purified
(partially or substantially) DNA molecules in solution. Isolated
RNA molecules include in vivo or in vitro RNA transcripts of the
isolated SNP-containing DNA molecules of the present invention.
Isolated nucleic acid molecules according to the present invention
further include such molecules produced synthetically.
[0140] Generally, an isolated SNP-containing nucleic acid molecule
comprises one or more SNP positions disclosed by the present
invention with flanking nucleotide sequences on either side of the
SNP positions. A flanking sequence can include nucleotide residues
that are naturally associated with the SNP site and/or heterologous
nucleotide sequences. Preferably, the flanking sequence is up to
about 500, 300, 100, 60, 50, 30, 25, 20, 15, 10, 8, or 4
nucleotides (or any other length in-between) on either side of a
SNP position, or as long as the full-length gene or entire
protein-coding sequence (or any portion thereof such as an exon),
especially if the SNP-containing nucleic acid molecule is to be
used to produce a protein or protein fragment.
[0141] For full-length genes and entire protein-coding sequences, a
SNP flanking sequence can be, for example, up to about 5 KB, 4 KB,
3 KB, 2 KB, 1 KB on either side of the SNP. Furthermore, in such
instances the isolated nucleic acid molecule comprises exonic
sequences (including protein-coding and/or non-coding exonic
sequences), but may also include intronic sequences. Thus, any
protein coding sequence may be either contiguous or separated by
introns. The important point is that the nucleic acid is isolated
from remote and unimportant flanking sequences and is of
appropriate length such that it can be subjected to the specific
manipulations or uses described herein such as recombinant protein
expression, preparation of probes and primers for assaying the SNP
position, and other uses specific to the SNP-containing nucleic
acid sequences.
[0142] An isolated SNP-containing nucleic acid molecule can
comprise, for example, a full-length gene or transcript, such as a
gene isolated from genomic DNA (e.g., by cloning or PCR
amplification), a cDNA molecule, or an mRNA transcript molecule.
Polymorphic transcript sequences are referred to in Table 1 and
provided in the Sequence Listing (SEQ ID NOS:1-16), and polymorphic
genomic sequences are referred to in Table 2 and provided in the
Sequence Listing (SEQ ID NOS:78-91). Furthermore, fragments of such
full-length genes and transcripts that contain one or more SNPs
disclosed herein are also encompassed by the present invention, and
such fragments may be used, for example, to express any part of a
protein, such as a particular functional domain or an antigenic
epitope.
[0143] Thus, the present invention also encompasses fragments of
the nucleic acid sequences as disclosed in Tables 1 and 2
(transcript sequences are referred to in Table 1 as SEQ ID
NOS:1-16, genomic sequences are referred to in Table 2 as SEQ ID
NOS:78-91, transcript-based SNP context sequences are referred to
in Table 1 as SEQ ID NOS:33-77, and genomic-based SNP context
sequences are referred to in Table 2 as SEQ ID NOS:92-584) and
their complements. The actual sequences referred to in the tables
are provided in the Sequence Listing. A fragment typically
comprises a contiguous nucleotide sequence at least about 8 or more
nucleotides, more preferably at least about 12 or more nucleotides,
and even more preferably at least about 16 or more nucleotides.
Furthermore, a fragment could comprise at least about 18, 20, 22,
25, 30, 40, 50, 60, 80, 100, 150, 200, 250 or 500 nucleotides in
length (or any other number in between). The length of the fragment
will be based on its intended use. For example, the fragment can
encode epitope-bearing regions of a variant peptide or regions of a
variant peptide that differ from the normal/wild-type protein, or
can be useful as a polynucleotide probe or primer. Such fragments
can be isolated using the nucleotide sequences provided in Table 1
and/or Table 2 for the synthesis of a polynucleotide probe. A
labeled probe can then be used, for example, to screen a cDNA
library, genomic DNA library, or mRNA to isolate nucleic acid
corresponding to the coding region. Further, primers can be used in
amplification reactions, such as for purposes of assaying one or
more SNPs sites or for cloning specific regions of a gene.
[0144] An isolated nucleic acid molecule of the present invention
further encompasses a SNP-containing polynucleotide that is the
product of any one of a variety of nucleic acid amplification
methods, which are used to increase the copy numbers of a
polynucleotide of interest in a nucleic acid sample. Such
amplification methods are well known in the art, and they include
but are not limited to, polymerase chain reaction (PCR) (U.S. Pat.
Nos. 4,683,195 and 4,683,202; PCR Technology: Principles and
Applications for DNA Amplification, ed. H. A. Erlich, Freeman
Press, NY, N.Y. (1992)), ligase chain reaction (LCR) (Wu and
Wallace, Genomics 4:560 (1989); Landegren et al., Science 241:1077
(1988)), strand displacement amplification (SDA) (U.S. Pat. Nos.
5,270,184 and 5,422,252), transcription-mediated amplification
(TMA) (U.S. Pat. No. 5,399,491), linked linear amplification (LLA)
(U.S. Pat. No. 6,027,923) and the like, and isothermal
amplification methods such as nucleic acid sequence based
amplification (NASBA) and self-sustained sequence replication
(Guatelli et al., Proc Natl Acad Sci USA 87:1874 (1990)). Based on
such methodologies, a person skilled in the art can readily design
primers in any suitable regions 5' and 3' to a SNP disclosed
herein. Such primers may be used to amplify DNA of any length so
long that it contains the SNP of interest in its sequence.
[0145] As used herein, an "amplified polynucleotide" of the
invention is a SNP-containing nucleic acid molecule whose amount
has been increased at least two fold by any nucleic acid
amplification method performed in vitro as compared to its starting
amount in a test sample. In other preferred embodiments, an
amplified polynucleotide is the result of at least ten fold, fifty
fold, one hundred fold, one thousand fold, or even ten thousand
fold increase as compared to its starting amount in a test sample.
In a typical PCR amplification, a polynucleotide of interest is
often amplified at least fifty thousand fold in amount over the
unamplified genomic DNA, but the precise amount of amplification
needed for an assay depends on the sensitivity of the subsequent
detection method used.
[0146] Generally, an amplified polynucleotide is at least about 16
nucleotides in length. More typically, an amplified polynucleotide
is at least about 20 nucleotides in length. In a preferred
embodiment of the invention, an amplified polynucleotide is at
least about 30 nucleotides in length. In a more preferred
embodiment of the invention, an amplified polynucleotide is at
least about 32, 40, 45, 50, or 60 nucleotides in length. In yet
another preferred embodiment of the invention, an amplified
polynucleotide is at least about 100, 200, 300, 400, or 500
nucleotides in length. While the total length of an amplified
polynucleotide of the invention can be as long as an exon, an
intron or the entire gene where the SNP of interest resides, an
amplified product is typically up to about 1,000 nucleotides in
length (although certain amplification methods may generate
amplified products greater than 1000 nucleotides in length). More
preferably, an amplified polynucleotide is not greater than about
600-700 nucleotides in length. It is understood that irrespective
of the length of an amplified polynucleotide, a SNP of interest may
be located anywhere along its sequence.
[0147] In a specific embodiment of the invention, the amplified
product is at least about 201 nucleotides in length, comprises one
of the transcript-based context sequences or the genomic-based
context sequences shown in Tables 1 and 2. Such a product may have
additional sequences on its 5' end or 3' end or both. In another
embodiment, the amplified product is about 101 nucleotides in
length, and it contains a SNP disclosed herein. Preferably, the SNP
is located at the middle of the amplified product (e.g., at
position 101 in an amplified product that is 201 nucleotides in
length, or at position 51 in an amplified product that is 101
nucleotides in length), or within 1, 2, 3, 4, 5, 6, 7, 8, 9, 10,
12, 15, or 20 nucleotides from the middle of the amplified product.
However, as indicated above, the SNP of interest may be located
anywhere along the length of the amplified product.
[0148] The present invention provides isolated nucleic acid
molecules that comprise, consist of, or consist essentially of one
or more polynucleotide sequences that contain one or more SNPs
disclosed herein, complements thereof, and SNP-containing fragments
thereof.
[0149] Accordingly, the present invention provides nucleic acid
molecules that consist of any of the nucleotide sequences shown in
Table 1 and/or Table 2 (transcript sequences are referred to in
Table 1 as SEQ ID NOS:1-16, genomic sequences are referred to in
Table 2 as SEQ ID NOS:78-91, transcript-based SNP context sequences
are referred to in Table 1 as SEQ ID NOS:33-77, and genomic-based
SNP context sequences are referred to in Table 2 as SEQ ID
NOS:92-584), or any nucleic acid molecule that encodes any of the
variant proteins referred to in Table 1 (SEQ ID NOS:17-32). The
actual sequences referred to in the tables are provided in the
Sequence Listing. A nucleic acid molecule consists of a nucleotide
sequence when the nucleotide sequence is the complete nucleotide
sequence of the nucleic acid molecule.
[0150] The present invention further provides nucleic acid
molecules that consist essentially of any of the nucleotide
sequences referred to in Table 1 and/or Table 2 (transcript
sequences are referred to in Table 1 as SEQ ID NOS:1-16, genomic
sequences are referred to in Table 2 as SEQ ID NOS:78-91,
transcript-based SNP context sequences are referred to in Table 1
as SEQ ID NOS:33-77, and genomic-based SNP context sequences are
referred to in Table 2 as SEQ ID NOS:92-584), or any nucleic acid
molecule that encodes any of the variant proteins referred to in
Table 1 (SEQ ID NOS:17-32). The actual sequences referred to in the
tables are provided in the Sequence Listing. A nucleic acid
molecule consists essentially of a nucleotide sequence when such a
nucleotide sequence is present with only a few additional
nucleotide residues in the final nucleic acid molecule.
[0151] The present invention further provides nucleic acid
molecules that comprise any of the nucleotide sequences shown in
Table 1 and/or Table 2 or a SNP-containing fragment thereof
(transcript sequences are referred to in Table 1 as SEQ ID
NOS:1-16, genomic sequences are referred to in Table 2 as SEQ ID
NOS:78-91, transcript-based SNP context sequences are referred to
in Table 1 as SEQ ID NOS:33-77, and genomic-based SNP context
sequences are referred to in Table 2 as SEQ ID NOS:92-584), or any
nucleic acid molecule that encodes any of the variant proteins
provided in Table 1 (SEQ ID NOS:17-32). The actual sequences
referred to in the tables are provided in the Sequence Listing. A
nucleic acid molecule comprises a nucleotide sequence when the
nucleotide sequence is at least part of the final nucleotide
sequence of the nucleic acid molecule. In such a fashion, the
nucleic acid molecule can be only the nucleotide sequence or have
additional nucleotide residues, such as residues that are naturally
associated with it or heterologous nucleotide sequences. Such a
nucleic acid molecule can have one to a few additional nucleotides
or can comprise many more additional nucleotides. A brief
description of how various types of these nucleic acid molecules
can be readily made and isolated is provided below, and such
techniques are well known to those of ordinary skill in the art.
Sambrook and Russell, Molecular Cloning: A Laboratory Manual, Cold
Spring Harbor Press, N.Y. (2000).
[0152] The isolated nucleic acid molecules can encode mature
proteins plus additional amino or carboxyl-terminal amino acids or
both, or amino acids interior to the mature peptide (when the
mature form has more than one peptide chain, for instance). Such
sequences may play a role in processing of a protein from precursor
to a mature form, facilitate protein trafficking, prolong or
shorten protein half-life, or facilitate manipulation of a protein
for assay or production. As generally is the case in situ, the
additional amino acids may be processed away from the mature
protein by cellular enzymes.
[0153] Thus, the isolated nucleic acid molecules include, but are
not limited to, nucleic acid molecules having a sequence encoding a
peptide alone, a sequence encoding a mature peptide and additional
coding sequences such as a leader or secretory sequence (e.g., a
pre-pro or pro-protein sequence), a sequence encoding a mature
peptide with or without additional coding sequences, plus
additional non-coding sequences, for example introns and non-coding
5' and 3' sequences such as transcribed but untranslated sequences
that play a role in, for example, transcription, mRNA processing
(including splicing and polyadenylation signals), ribosome binding,
and/or stability of mRNA. In addition, the nucleic acid molecules
may be fused to heterologous marker sequences encoding, for
example, a peptide that facilitates purification.
[0154] Isolated nucleic acid molecules can be in the form of RNA,
such as mRNA, or in the form DNA, including cDNA and genomic DNA,
which may be obtained, for example, by molecular cloning or
produced by chemical synthetic techniques or by a combination
thereof. Sambrook and Russell, Molecular Cloning: A Laboratory
Manual, Cold Spring Harbor Press, N.Y. (2000). Furthermore,
isolated nucleic acid molecules, particularly SNP detection
reagents such as probes and primers, can also be partially or
completely in the form of one or more types of nucleic acid
analogs, such as peptide nucleic acid (PNA). U.S. Pat. Nos.
5,539,082; 5,527,675; 5,623,049; and 5,714,331. The nucleic acid,
especially DNA, can be double-stranded or single-stranded.
Single-stranded nucleic acid can be the coding strand (sense
strand) or the complementary non-coding strand (anti-sense strand).
DNA, RNA, or PNA segments can be assembled, for example, from
fragments of the human genome (in the case of DNA or RNA) or single
nucleotides, short oligonucleotide linkers, or from a series of
oligonucleotides, to provide a synthetic nucleic acid molecule.
Nucleic acid molecules can be readily synthesized using the
sequences provided herein as a reference; oligonucleotide and PNA
oligomer synthesis techniques are well known in the art. See, e.g.,
Corey, "Peptide nucleic acids: expanding the scope of nucleic acid
recognition," Trends Biotechnol 15(6):224-9 (June 1997), and Hyrup
et al., "Peptide nucleic acids (PNA): synthesis, properties and
potential applications," Bioorg Med Chem 4(1):5-23) (January 1996).
Furthermore, large-scale automated oligonucleotide/PNA synthesis
(including synthesis on an array or bead surface or other solid
support) can readily be accomplished using commercially available
nucleic acid synthesizers, such as the Applied Biosystems (Foster
City, Calif.) 3900 High-Throughput DNA Synthesizer or Expedite 8909
Nucleic Acid Synthesis System, and the sequence information
provided herein.
[0155] The present invention encompasses nucleic acid analogs that
contain modified, synthetic, or non-naturally occurring nucleotides
or structural elements or other alternative/modified nucleic acid
chemistries known in the art. Such nucleic acid analogs are useful,
for example, as detection reagents (e.g., primers/probes) for
detecting one or more SNPs identified in Table 1 and/or Table 2.
Furthermore, kits/systems (such as beads, arrays, etc.) that
include these analogs are also encompassed by the present
invention. For example, PNA oligomers that are based on the
polymorphic sequences of the present invention are specifically
contemplated. PNA oligomers are analogs of DNA in which the
phosphate backbone is replaced with a peptide-like backbone.
Lagriffoul et al., Bioorganic & Medicinal Chemistry Letters
4:1081-1082 (1994); Petersen et al., Bioorganic & Medicinal
Chemistry Letters 6:793-796 (1996); Kumar et al., Organic Letters
3(9):1269-1272 (2001); WO 96/04000. PNA hybridizes to complementary
RNA or DNA with higher affinity and specificity than conventional
oligonucleotides and oligonucleotide analogs. The properties of PNA
enable novel molecular biology and biochemistry applications
unachievable with traditional oligonucleotides and peptides.
[0156] Additional examples of nucleic acid modifications that
improve the binding properties and/or stability of a nucleic acid
include the use of base analogs such as inosine, intercalators
(U.S. Pat. No. 4,835,263) and the minor groove binders (U.S. Pat.
No. 5,801,115). Thus, references herein to nucleic acid molecules,
SNP-containing nucleic acid molecules, SNP detection reagents
(e.g., probes and primers), oligonucleotides/polynucleotides
include PNA oligomers and other nucleic acid analogs. Other
examples of nucleic acid analogs and alternative/modified nucleic
acid chemistries known in the art are described in Current
Protocols in Nucleic Acid Chemistry, John Wiley & Sons, N.Y.
(2002).
[0157] The present invention further provides nucleic acid
molecules that encode fragments of the variant polypeptides
disclosed herein as well as nucleic acid molecules that encode
obvious variants of such variant polypeptides. Such nucleic acid
molecules may be naturally occurring, such as paralogs (different
locus) and orthologs (different organism), or may be constructed by
recombinant DNA methods or by chemical synthesis. Non-naturally
occurring variants may be made by mutagenesis techniques, including
those applied to nucleic acid molecules, cells, or organisms.
Accordingly, the variants can contain nucleotide substitutions,
deletions, inversions and insertions (in addition to the SNPs
disclosed in Tables 1 and 2). Variation can occur in either or both
the coding and non-coding regions. The variations can produce
conservative and/or non-conservative amino acid substitutions.
[0158] Further variants of the nucleic acid molecules disclosed in
Tables 1 and 2, such as naturally occurring allelic variants (as
well as orthologs and paralogs) and synthetic variants produced by
mutagenesis techniques, can be identified and/or produced using
methods well known in the art. Such further variants can comprise a
nucleotide sequence that shares at least 70-80%, 80-85%, 85-90%,
91%, 92%, 93%, 94%, 95%, 96%, 97%, 98%, or 99% sequence identity
with a nucleic acid sequence disclosed in Table 1 and/or Table 2
(or a fragment thereof) and that includes a novel SNP allele
disclosed in Table 1 and/or Table 2. Further, variants can comprise
a nucleotide sequence that encodes a polypeptide that shares at
least 70-80%, 80-85%, 85-90%, 91%, 92%, 93%, 94%, 95%, 96%, 97%,
98%, or 99% sequence identity with a polypeptide sequence disclosed
in Table 1 (or a fragment thereof) and that includes a novel SNP
allele disclosed in Table 1 and/or Table 2. Thus, an aspect of the
present invention that is specifically contemplated are isolated
nucleic acid molecules that have a certain degree of sequence
variation compared with the sequences shown in Tables 1-2, but that
contain a novel SNP allele disclosed herein. In other words, as
long as an isolated nucleic acid molecule contains a novel SNP
allele disclosed herein, other portions of the nucleic acid
molecule that flank the novel SNP allele can vary to some degree
from the specific transcript, genomic, and context sequences
referred to and shown in Tables 1 and 2, and can encode a
polypeptide that varies to some degree from the specific
polypeptide sequences referred to in Table 1.
[0159] To determine the percent identity of two amino acid
sequences or two nucleotide sequences of two molecules that share
sequence homology, the sequences are aligned for optimal comparison
purposes (e.g., gaps can be introduced in one or both of a first
and a second amino acid or nucleic acid sequence for optimal
alignment and non-homologous sequences can be disregarded for
comparison purposes). In a preferred embodiment, at least 30%, 40%,
50%, 60%, 70%, 80%, or 90% or more of the length of a reference
sequence is aligned for comparison purposes. The amino acid
residues or nucleotides at corresponding amino acid positions or
nucleotide positions are then compared. When a position in the
first sequence is occupied by the same amino acid residue or
nucleotide as the corresponding position in the second sequence,
then the molecules are identical at that position (as used herein,
amino acid or nucleic acid "identity" is equivalent to amino acid
or nucleic acid "homology"). The percent identity between the two
sequences is a function of the number of identical positions shared
by the sequences, taking into account the number of gaps, and the
length of each gap, which need to be introduced for optimal
alignment of the two sequences.
[0160] The comparison of sequences and determination of percent
identity between two sequences can be accomplished using a
mathematical algorithm. Computational Molecular Biology, A.M. Lesk,
ed., Oxford University Press, N.Y (1988); Biocomputing: Informatics
and Genome Projects, D. W. Smith, ed., Academic Press, N.Y. (1993);
Computer Analysis of Sequence Data, Part 1, A. M. Griffin and H. G.
Griffin, eds., Humana Press, N.J. (1994); Sequence Analysis in
Molecular Biology, G. von Heinje, ed., Academic Press, N.Y. (1987);
and Sequence Analysis Primer, M. Gribskov and J. Devereux, eds., M.
Stockton Press, N.Y. (1991). In a preferred embodiment, the percent
identity between two amino acid sequences is determined using the
Needleman and Wunsch algorithm (J Mol Biol (48):444-453 (1970))
which has been incorporated into the GAP program in the GCG
software package, using either a Blossom 62 matrix or a PAM250
matrix, and a gap weight of 16, 14, 12, 10, 8, 6, or 4 and a length
weight of 1, 2, 3, 4, 5, or 6.
[0161] In yet another preferred embodiment, the percent identity
between two nucleotide sequences is determined using the GAP
program in the GCG software package using a NWSgapdna.CMP matrix
and a gap weight of 40, 50, 60, 70, or 80 and a length weight of 1,
2, 3, 4, 5, or 6. J. Devereux et al., Nucleic Acids Res. 12(1):387
(1984). In another embodiment, the percent identity between two
amino acid or nucleotide sequences is determined using the
algorithm of E. Myers and W. Miller (CABIOS 4:11-17 (1989)) which
has been incorporated into the ALIGN program (version 2.0), using a
PAM120 weight residue table, a gap length penalty of 12, and a gap
penalty of 4.
[0162] The nucleotide and amino acid sequences of the present
invention can further be used as a "query sequence" to perform a
search against sequence databases; for example, to identify other
family members or related sequences. Such searches can be performed
using the NBLAST and XBLAST programs (version 2.0). Altschul et
al., J Mol Biol 215:403-10 (1990). BLAST nucleotide searches can be
performed with the NBLAST program, score=100, wordlength=12 to
obtain nucleotide sequences homologous to the nucleic acid
molecules of the invention. BLAST protein searches can be performed
with the XBLAST program, score=50, wordlength=3 to obtain amino
acid sequences homologous to the proteins of the invention. To
obtain gapped alignments for comparison purposes, Gapped BLAST can
be utilized. Altschul et al., Nucleic Acids Res 25(17):3389-3402
(1997). When utilizing BLAST and gapped BLAST programs, the default
parameters of the respective programs (e.g., XBLAST and NBLAST) can
be used. In addition to BLAST, examples of other search and
sequence comparison programs used in the art include, but are not
limited to, FASTA (Pearson, Methods Mol Biol 25, 365-389 (1994))
and KERR (Dufresne et al., Nat Biotechnol 20(12):1269-71 (December
2002)). For further information regarding bioinformatics
techniques, see Current Protocols in Bioinformatics, John Wiley
& Sons, Inc., N.Y.
[0163] The present invention further provides non-coding fragments
of the nucleic acid molecules disclosed in Table 1 and/or Table 2.
Preferred non-coding fragments include, but are not limited to,
promoter sequences, enhancer sequences, intronic sequences, 5'
untranslated regions (UTRs), 3' untranslated regions, gene
modulating sequences and gene termination sequences. Such fragments
are useful, for example, in controlling heterologous gene
expression and in developing screens to identify gene-modulating
agents.
[0164] SNP Detection Reagents
[0165] In a specific aspect of the present invention, the SNPs
disclosed in Table 1 and/or Table 2, and their associated
transcript sequences (referred to in Table 1 as SEQ ID NOS:1-16),
genomic sequences (referred to in Table 2 as SEQ ID NOS:78-91), and
context sequences (transcript-based context sequences are referred
to in Table 1 as SEQ ID NOS:33-77; genomic-based context sequences
are provided in Table 2 as SEQ ID NOS:92-584), can be used for the
design of SNP detection reagents. The actual sequences referred to
in the tables are provided in the Sequence Listing. As used herein,
a "SNP detection reagent" is a reagent that specifically detects a
specific target SNP position disclosed herein, and that is
preferably specific for a particular nucleotide (allele) of the
target SNP position (i.e., the detection reagent preferably can
differentiate between different alternative nucleotides at a target
SNP position, thereby allowing the identity of the nucleotide
present at the target SNP position to be determined). Typically,
such detection reagent hybridizes to a target SNP-containing
nucleic acid molecule by complementary base-pairing in a sequence
specific manner, and discriminates the target variant sequence from
other nucleic acid sequences such as an art-known form in a test
sample. An example of a detection reagent is a probe that
hybridizes to a target nucleic acid containing one or more of the
SNPs referred to in Table 1 and/or Table 2. In a preferred
embodiment, such a probe can differentiate between nucleic acids
having a particular nucleotide (allele) at a target SNP position
from other nucleic acids that have a different nucleotide at the
same target SNP position. In addition, a detection reagent may
hybridize to a specific region 5' and/or 3' to a SNP position,
particularly a region corresponding to the context sequences
referred to in Table 1 and/or Table 2 (transcript-based context
sequences are referred to in Table 1 as SEQ ID NOS:33-77;
genomic-based context sequences are referred to in Table 2 as SEQ
ID NOS:92-584). Another example of a detection reagent is a primer
that acts as an initiation point of nucleotide extension along a
complementary strand of a target polynucleotide. The SNP sequence
information provided herein is also useful for designing primers,
e.g. allele-specific primers, to amplify (e.g., using PCR) any SNP
of the present invention.
[0166] In one preferred embodiment of the invention, a SNP
detection reagent is an isolated or synthetic DNA or RNA
polynucleotide probe or primer or PNA oligomer, or a combination of
DNA, RNA and/or PNA, that hybridizes to a segment of a target
nucleic acid molecule containing a SNP identified in Table 1 and/or
Table 2. A detection reagent in the form of a polynucleotide may
optionally contain modified base analogs, intercalators or minor
groove binders. Multiple detection reagents such as probes may be,
for example, affixed to a solid support (e.g., arrays or beads) or
supplied in solution (e.g. probe/primer sets for enzymatic
reactions such as PCR, RT-PCR, TaqMan assays, or primer-extension
reactions) to form a SNP detection kit.
[0167] A probe or primer typically is a substantially purified
oligonucleotide or PNA oligomer. Such oligonucleotide typically
comprises a region of complementary nucleotide sequence that
hybridizes under stringent conditions to at least about 8, 10, 12,
16, 18, 20, 22, 25, 30, 40, 50, 55, 60, 65, 70, 80, 90, 100, 120
(or any other number in-between) or more consecutive nucleotides in
a target nucleic acid molecule. Depending on the particular assay,
the consecutive nucleotides can either include the target SNP
position, or be a specific region in close enough proximity 5'
and/or 3' to the SNP position to carry out the desired assay.
[0168] Other preferred primer and probe sequences can readily be
determined using the transcript sequences (SEQ ID NOS:1-16),
genomic sequences (SEQ ID NOS:78-91), and SNP context sequences
(transcript-based context sequences are referred to in Table 1 as
SEQ ID NOS:33-77; genomic-based context sequences are referred to
in Table 2 as SEQ ID NOS:92-584) disclosed in the Sequence Listing
and in Tables 1 and 2. The actual sequences referred to in the
tables are provided in the Sequence Listing. It will be apparent to
one of skill in the art that such primers and probes are directly
useful as reagents for genotyping the SNPs of the present
invention, and can be incorporated into any kit/system format.
[0169] In order to produce a probe or primer specific for a target
SNP-containing sequence, the gene/transcript and/or context
sequence surrounding the SNP of interest is typically examined
using a computer algorithm that starts at the 5' or at the 3' end
of the nucleotide sequence. Typical algorithms will then identify
oligomers of defined length that are unique to the gene/SNP context
sequence, have a GC content within a range suitable for
hybridization, lack predicted secondary structure that may
interfere with hybridization, and/or possess other desired
characteristics or that lack other undesired characteristics.
[0170] A primer or probe of the present invention is typically at
least about 8 nucleotides in length. In one embodiment of the
invention, a primer or a probe is at least about 10 nucleotides in
length. In a preferred embodiment, a primer or a probe is at least
about 12 nucleotides in length. In a more preferred embodiment, a
primer or probe is at least about 16, 17, 18, 19, 20, 21, 22, 23,
24 or 25 nucleotides in length. While the maximal length of a probe
can be as long as the target sequence to be detected, depending on
the type of assay in which it is employed, it is typically less
than about 50, 60, 65, or 70 nucleotides in length. In the case of
a primer, it is typically less than about 30 nucleotides in length.
In a specific preferred embodiment of the invention, a primer or a
probe is within the length of about 18 and about 28 nucleotides.
However, in other embodiments, such as nucleic acid arrays and
other embodiments in which probes are affixed to a substrate, the
probes can be longer, such as on the order of 30-70, 75, 80, 90,
100, or more nucleotides in length (see the section below entitled
"SNP Detection Kits and Systems").
[0171] For analyzing SNPs, it may be appropriate to use
oligonucleotides specific for alternative SNP alleles. Such
oligonucleotides that detect single nucleotide variations in target
sequences may be referred to by such terms as "allele-specific
oligonucleotides," "allele-specific probes," or "allele-specific
primers." The design and use of allele-specific probes for
analyzing polymorphisms is described in, e.g., Mutation Detection:
A Practical Approach, Cotton et al., eds., Oxford University Press
(1998); Saiki et al., Nature 324:163-166 (1986); Dattagupta,
EP235,726; and Saiki, WO 89/11548.
[0172] While the design of each allele-specific primer or probe
depends on variables such as the precise composition of the
nucleotide sequences flanking a SNP position in a target nucleic
acid molecule, and the length of the primer or probe, another
factor in the use of primers and probes is the stringency of the
condition under which the hybridization between the probe or primer
and the target sequence is performed. Higher stringency conditions
utilize buffers with lower ionic strength and/or a higher reaction
temperature, and tend to require a more perfect match between
probe/primer and a target sequence in order to form a stable
duplex. If the stringency is too high, however, hybridization may
not occur at all. In contrast, lower stringency conditions utilize
buffers with higher ionic strength and/or a lower reaction
temperature, and permit the formation of stable duplexes with more
mismatched bases between a probe/primer and a target sequence. By
way of example and not limitation, exemplary conditions for high
stringency hybridization conditions using an allele-specific probe
are as follows: prehybridization with a solution containing
5.times. standard saline phosphate EDTA (SSPE), 0.5% NaDodSO.sub.4
(SDS) at 55.degree. C., and incubating probe with target nucleic
acid molecules in the same solution at the same temperature,
followed by washing with a solution containing 2.times.SSPE, and
0.1% SDS at 55.degree. C. or room temperature.
[0173] Moderate stringency hybridization conditions may be used for
allele-specific primer extension reactions with a solution
containing, e.g., about 50 mM KCl at about 46.degree. C.
Alternatively, the reaction may be carried out at an elevated
temperature such as 60.degree. C. In another embodiment, a
moderately stringent hybridization condition suitable for
oligonucleotide ligation assay (OLA) reactions wherein two probes
are ligated if they are completely complementary to the target
sequence may utilize a solution of about 100 mM KCl at a
temperature of 46.degree. C.
[0174] In a hybridization-based assay, allele-specific probes can
be designed that hybridize to a segment of target DNA from one
individual but do not hybridize to the corresponding segment from
another individual due to the presence of different polymorphic
forms (e.g., alternative SNP alleles/nucleotides) in the respective
DNA segments from the two individuals. Hybridization conditions
should be sufficiently stringent that there is a significant
detectable difference in hybridization intensity between alleles,
and preferably an essentially binary response, whereby a probe
hybridizes to only one of the alleles or significantly more
strongly to one allele. While a probe may be designed to hybridize
to a target sequence that contains a SNP site such that the SNP
site aligns anywhere along the sequence of the probe, the probe is
preferably designed to hybridize to a segment of the target
sequence such that the SNP site aligns with a central position of
the probe (e.g., a position within the probe that is at least three
nucleotides from either end of the probe). This design of probe
generally achieves good discrimination in hybridization between
different allelic forms.
[0175] In another embodiment, a probe or primer may be designed to
hybridize to a segment of target DNA such that the SNP aligns with
either the 5' most end or the 3' most end of the probe or primer.
In a specific preferred embodiment that is particularly suitable
for use in a oligonucleotide ligation assay (U.S. Pat. No.
4,988,617), the 3' most nucleotide of the probe aligns with the SNP
position in the target sequence.
[0176] Oligonucleotide probes and primers may be prepared by
methods well known in the art. Chemical synthetic methods include,
but are not limited to, the phosphotriester method described by
Narang et al., Methods in Enzymology 68:90 (1979); the
phosphodiester method described by Brown et al., Methods in
Enzymology 68:109 (1979); the diethylphosphoamidate method
described by Beaucage et al., Tetrahedron Letters 22:1859 (1981);
and the solid support method described in U.S. Pat. No.
4,458,066.
[0177] Allele-specific probes are often used in pairs (or, less
commonly, in sets of 3 or 4, such as if a SNP position is known to
have 3 or 4 alleles, respectively, or to assay both strands of a
nucleic acid molecule for a target SNP allele), and such pairs may
be identical except for a one nucleotide mismatch that represents
the allelic variants at the SNP position. Commonly, one member of a
pair perfectly matches a reference form of a target sequence that
has a more common SNP allele (i.e., the allele that is more
frequent in the target population) and the other member of the pair
perfectly matches a form of the target sequence that has a less
common SNP allele (i.e., the allele that is rarer in the target
population). In the case of an array, multiple pairs of probes can
be immobilized on the same support for simultaneous analysis of
multiple different polymorphisms.
[0178] In one type of PCR-based assay, an allele-specific primer
hybridizes to a region on a target nucleic acid molecule that
overlaps a SNP position and only primes amplification of an allelic
form to which the primer exhibits perfect complementarity. Gibbs,
Nucleic Acid Res 17:2427-2448 (1989). Typically, the primer's
3'-most nucleotide is aligned with and complementary to the SNP
position of the target nucleic acid molecule. This primer is used
in conjunction with a second primer that hybridizes at a distal
site. Amplification proceeds from the two primers, producing a
detectable product that indicates which allelic form is present in
the test sample. A control is usually performed with a second pair
of primers, one of which shows a single base mismatch at the
polymorphic site and the other of which exhibits perfect
complementarity to a distal site. The single-base mismatch prevents
amplification or substantially reduces amplification efficiency, so
that either no detectable product is formed or it is formed in
lower amounts or at a slower pace. The method generally works most
effectively when the mismatch is at the 3'-most position of the
oligonucleotide (i.e., the 3'-most position of the oligonucleotide
aligns with the target SNP position) because this position is most
destabilizing to elongation from the primer (see, e.g., WO
93/22456). This PCR-based assay can be utilized as part of the
TaqMan assay, described below.
[0179] In a specific embodiment of the invention, a primer of the
invention contains a sequence substantially complementary to a
segment of a target SNP-containing nucleic acid molecule except
that the primer has a mismatched nucleotide in one of the three
nucleotide positions at the 3'-most end of the primer, such that
the mismatched nucleotide does not base pair with a particular
allele at the SNP site. In a preferred embodiment, the mismatched
nucleotide in the primer is the second from the last nucleotide at
the 3'-most position of the primer. In a more preferred embodiment,
the mismatched nucleotide in the primer is the last nucleotide at
the 3'-most position of the primer.
[0180] In another embodiment of the invention, a SNP detection
reagent of the invention is labeled with a fluorogenic reporter dye
that emits a detectable signal. While the preferred reporter dye is
a fluorescent dye, any reporter dye that can be attached to a
detection reagent such as an oligonucleotide probe or primer is
suitable for use in the invention. Such dyes include, but are not
limited to, Acridine, AMCA, BODIPY, Cascade Blue, Cy2, Cy3, Cy5,
Cy7, Dabcyl, Edans, Eosin, Erythrosin, Fluorescein, 6-Fam, Tet,
Joe, Hex, Oregon Green, Rhodamine, Rhodol Green, Tamra, Rox, and
Texas Red.
[0181] In yet another embodiment of the invention, the detection
reagent may be further labeled with a quencher dye such as Tamra,
especially when the reagent is used as a self-quenching probe such
as a TaqMan (U.S. Pat. Nos. 5,210,015 and 5,538,848) or Molecular
Beacon probe (U.S. Pat. Nos. 5,118,801 and 5,312,728), or other
stemless or linear beacon probe (Livak et al., PCR Method Appl
4:357-362 (1995); Tyagi et al., Nature Biotechnology 14:303-308
(1996); Nazarenko et al., Nucl Acids Res 25:2516-2521 (1997); U.S.
Pat. Nos. 5,866,336 and 6,117,635.
[0182] The detection reagents of the invention may also contain
other labels, including but not limited to, biotin for streptavidin
binding, hapten for antibody binding, and oligonucleotide for
binding to another complementary oligonucleotide such as pairs of
zipcodes.
[0183] The present invention also contemplates reagents that do not
contain (or that are complementary to) a SNP nucleotide identified
herein but that are used to assay one or more SNPs disclosed
herein. For example, primers that flank, but do not hybridize
directly to a target SNP position provided herein are useful in
primer extension reactions in which the primers hybridize to a
region adjacent to the target SNP position (i.e., within one or
more nucleotides from the target SNP site). During the primer
extension reaction, a primer is typically not able to extend past a
target SNP site if a particular nucleotide (allele) is present at
that target SNP site, and the primer extension product can be
detected in order to determine which SNP allele is present at the
target SNP site. For example, particular ddNTPs are typically used
in the primer extension reaction to terminate primer extension once
a ddNTP is incorporated into the extension product (a primer
extension product which includes a ddNTP at the 3'-most end of the
primer extension product, and in which the ddNTP is a nucleotide of
a SNP disclosed herein, is a composition that is specifically
contemplated by the present invention). Thus, reagents that bind to
a nucleic acid molecule in a region adjacent to a SNP site and that
are used for assaying the SNP site, even though the bound sequences
do not necessarily include the SNP site itself, are also
contemplated by the present invention.
[0184] SNP Detection Kits and Systems
[0185] A person skilled in the art will recognize that, based on
the SNP and associated sequence information disclosed herein,
detection reagents can be developed and used to assay any SNP of
the present invention individually or in combination, and such
detection reagents can be readily incorporated into one of the
established kit or system formats which are well known in the art.
The terms "kits" and "systems," as used herein in the context of
SNP detection reagents, are intended to refer to such things as
combinations of multiple SNP detection reagents, or one or more SNP
detection reagents in combination with one or more other types of
elements or components (e.g., other types of biochemical reagents,
containers, packages such as packaging intended for commercial
sale, substrates to which SNP detection reagents are attached,
electronic hardware components, etc.). Accordingly, the present
invention further provides SNP detection kits and systems,
including but not limited to, packaged probe and primer sets (e.g.
TaqMan probe/primer sets), arrays/microarrays of nucleic acid
molecules, and beads that contain one or more probes, primers, or
other detection reagents for detecting one or more SNPs of the
present invention. The kits/systems can optionally include various
electronic hardware components; for example, arrays ("DNA chips")
and microfluidic systems ("lab-on-a-chip" systems) provided by
various manufacturers typically comprise hardware components. Other
kits/systems (e.g., probe/primer sets) may not include electronic
hardware components, but may be comprised of, for example, one or
more SNP detection reagents (along with, optionally, other
biochemical reagents) packaged in one or more containers.
[0186] In some embodiments, a SNP detection kit typically contains
one or more detection reagents and other components (e.g. a buffer,
enzymes such as DNA polymerases or ligases, chain extension
nucleotides such as deoxynucleotide triphosphates, and in the case
of Sanger-type DNA sequencing reactions, chain terminating
nucleotides, positive control sequences, negative control
sequences, and the like) necessary to carry out an assay or
reaction, such as amplification and/or detection of a
SNP-containing nucleic acid molecule. A kit may further contain
means for determining the amount of a target nucleic acid, and
means for comparing the amount with a standard, and can comprise
instructions for using the kit to detect the SNP-containing nucleic
acid molecule of interest. In one embodiment of the present
invention, kits are provided which contain the necessary reagents
to carry out one or more assays to detect one or more SNPs
disclosed herein. In a preferred embodiment of the present
invention, SNP detection kits/systems are in the form of nucleic
acid arrays, or compartmentalized kits, including
microfluidic/lab-on-a-chip systems.
[0187] SNP detection kits/systems may contain, for example, one or
more probes, or pairs of probes, that hybridize to a nucleic acid
molecule at or near each target SNP position. Multiple pairs of
allele-specific probes may be included in the kit/system to
simultaneously assay large numbers of SNPs, at least one of which
is a SNP of the present invention. In some kits/systems, the
allele-specific probes are immobilized to a substrate such as an
array or bead. For example, the same substrate can comprise
allele-specific probes for detecting at least 1; 10; 100; 1000;
10,000; 100,000 (or any other number in-between) or substantially
all of the SNPs shown in Table 1 and/or Table 2.
[0188] The terms "arrays," "microarrays," and "DNA chips" are used
herein interchangeably to refer to an array of distinct
polynucleotides affixed to a substrate, such as glass, plastic,
paper, nylon or other type of membrane, filter, chip, or any other
suitable solid support. The polynucleotides can be synthesized
directly on the substrate, or synthesized separate from the
substrate and then affixed to the substrate. In one embodiment, the
microarray is prepared and used according to the methods described
in Chee et al., U.S. Pat. No. 5,837,832 and PCT application
WO95/11995; D. J. Lockhart et al., Nat Biotech 14:1675-1680 (1996);
and M. Schena et al., Proc Natl Acad Sci 93:10614-10619 (1996), all
of which are incorporated herein in their entirety by reference. In
other embodiments, such arrays are produced by the methods
described by Brown et al., U.S. Pat. No. 5,807,522.
[0189] Nucleic acid arrays are reviewed in the following
references: Zammatteo et al., "New chips for molecular biology and
diagnostics," Biotechnol Annu Rev 8:85-101 (2002); Sosnowski et
al., "Active microelectronic array system for DNA hybridization,
genotyping and pharmacogenomic applications," Psychiatr Genet.
12(4):181-92 (December 2002); Heller, "DNA microarray technology:
devices, systems, and applications," Annu Rev Biomed Eng 4:129-53
(2002); Epub Mar. 22, 2002; Kolchinsky et al., "Analysis of SNPs
and other genomic variations using gel-based chips," Hum Mutat
19(4):343-60 (April 2002); and McGall et al., "High-density
genechip oligonucleotide probe arrays," Adv Biochem Eng Biotechnol
77:21-42 (2002).
[0190] Any number of probes, such as allele-specific probes, may be
implemented in an array, and each probe or pair of probes can
hybridize to a different SNP position. In the case of
polynucleotide probes, they can be synthesized at designated areas
(or synthesized separately and then affixed to designated areas) on
a substrate using a light-directed chemical process. Each DNA chip
can contain, for example, thousands to millions of individual
synthetic polynucleotide probes arranged in a grid-like pattern and
miniaturized (e.g., to the size of a dime). Preferably, probes are
attached to a solid support in an ordered, addressable array.
[0191] A microarray can be composed of a large number of unique,
single-stranded polynucleotides, usually either synthetic antisense
polynucleotides or fragments of cDNAs, fixed to a solid support.
Typical polynucleotides are preferably about 6-60 nucleotides in
length, more preferably about 15-30 nucleotides in length, and most
preferably about 18-25 nucleotides in length. For certain types of
microarrays or other detection kits/systems, it may be preferable
to use oligonucleotides that are only about 7-20 nucleotides in
length. In other types of arrays, such as arrays used in
conjunction with chemiluminescent detection technology, preferred
probe lengths can be, for example, about 15-80 nucleotides in
length, preferably about 50-70 nucleotides in length, more
preferably about 55-65 nucleotides in length, and most preferably
about 60 nucleotides in length. The microarray or detection kit can
contain polynucleotides that cover the known 5' or 3' sequence of a
gene/transcript or target SNP site, sequential polynucleotides that
cover the full-length sequence of a gene/transcript; or unique
polynucleotides selected from particular areas along the length of
a target gene/transcript sequence, particularly areas corresponding
to one or more SNPs disclosed in Table 1 and/or Table 2.
Polynucleotides used in the microarray or detection kit can be
specific to a SNP or SNPs of interest (e.g., specific to a
particular SNP allele at a target SNP site, or specific to
particular SNP alleles at multiple different SNP sites), or
specific to a polymorphic gene/transcript or genes/transcripts of
interest.
[0192] Hybridization assays based on polynucleotide arrays rely on
the differences in hybridization stability of the probes to
perfectly matched and mismatched target sequence variants. For SNP
genotyping, it is generally preferable that stringency conditions
used in hybridization assays are high enough such that nucleic acid
molecules that differ from one another at as little as a single SNP
position can be differentiated (e.g., typical SNP hybridization
assays are designed so that hybridization will occur only if one
particular nucleotide is present at a SNP position, but will not
occur if an alternative nucleotide is present at that SNP
position). Such high stringency conditions may be preferable when
using, for example, nucleic acid arrays of allele-specific probes
for SNP detection. Such high stringency conditions are described in
the preceding section, and are well known to those skilled in the
art and can be found in, for example, Current Protocols in
Molecular Biology 6.3.1-6.3.6, John Wiley & Sons, N.Y.
(1989).
[0193] In other embodiments, the arrays are used in conjunction
with chemiluminescent detection technology. The following patents
and patent applications, which are all hereby incorporated by
reference, provide additional information pertaining to
chemiluminescent detection. U.S. patent applications that describe
chemiluminescent approaches for microarray detection: 10/620,332
and 10/620,333. U.S. patents that describe methods and compositions
of dioxetane for performing chemiluminescent detection: Nos.
6,124,478; 6,107,024; 5,994,073; 5,981,768; 5,871,938; 5,843,681;
5,800,999 and 5,773,628. And the U.S. published application that
discloses methods and compositions for microarray controls:
US2002/0110828.
[0194] In one embodiment of the invention, a nucleic acid array can
comprise an array of probes of about 15-25 nucleotides in length.
In further embodiments, a nucleic acid array can comprise any
number of probes, in which at least one probe is capable of
detecting one or more SNPs disclosed in Table 1 and/or Table 2,
and/or at least one probe comprises a fragment of one of the
sequences selected from the group consisting of those disclosed in
Table 1, Table 2, the Sequence Listing, and sequences complementary
thereto, said fragment comprising at least about 8 consecutive
nucleotides, preferably 10, 12, 15, 16, 18, 20, more preferably 22,
25, 30, 40, 47, 50, 55, 60, 65, 70, 80, 90, 100, or more
consecutive nucleotides (or any other number in-between) and
containing (or being complementary to) a novel SNP allele disclosed
in Table 1 and/or Table 2. In some embodiments, the nucleotide
complementary to the SNP site is within 5, 4, 3, 2, or 1 nucleotide
from the center of the probe, more preferably at the center of said
probe.
[0195] A polynucleotide probe can be synthesized on the surface of
the substrate by using a chemical coupling procedure and an ink jet
application apparatus, as described in PCT application WO95/251116
(Baldeschweiler et al.) which is incorporated herein in its
entirety by reference. In another aspect, a "gridded" array
analogous to a dot (or slot) blot may be used to arrange and link
cDNA fragments or oligonucleotides to the surface of a substrate
using a vacuum system, thermal, UV, mechanical or chemical bonding
procedures. An array, such as those described above, may be
produced by hand or by using available devices (slot blot or dot
blot apparatus), materials (any suitable solid support), and
machines (including robotic instruments), and may contain 8, 24,
96, 384, 1536, 6144 or more polynucleotides, or any other number
which lends itself to the efficient use of commercially available
instrumentation.
[0196] Using such arrays or other kits/systems, the present
invention provides methods of identifying the SNPs disclosed herein
in a test sample. Such methods typically involve incubating a test
sample of nucleic acids with an array comprising one or more probes
corresponding to at least one SNP position of the present
invention, and assaying for binding of a nucleic acid from the test
sample with one or more of the probes. Conditions for incubating a
SNP detection reagent (or a kit/system that employs one or more
such SNP detection reagents) with a test sample vary. Incubation
conditions depend on such factors as the format employed in the
assay, the detection methods employed, and the type and nature of
the detection reagents used in the assay. One skilled in the art
will recognize that any one of the commonly available
hybridization, amplification and array assay formats can readily be
adapted to detect the SNPs disclosed herein.
[0197] A SNP detection kit/system of the present invention may
include components that are used to prepare nucleic acids from a
test sample for the subsequent amplification and/or detection of a
SNP-containing nucleic acid molecule. Such sample preparation
components can be used to produce nucleic acid extracts (including
DNA and/or RNA), proteins or membrane extracts from any bodily
fluids (such as blood, serum, plasma, urine, saliva, phlegm,
gastric juices, semen, tears, sweat, etc.), skin, hair, cells
(especially nucleated cells) such as buccal cells (e.g., as
obtained by buccal swabs), biopsies, or tissue specimens. The test
samples used in the above-described methods will vary based on such
factors as the assay format, nature of the detection method, and
the specific tissues, cells or extracts used as the test sample to
be assayed. Methods of preparing nucleic acids, proteins, and cell
extracts are well known in the art and can be readily adapted to
obtain a sample that is compatible with the system utilized.
Automated sample preparation systems for extracting nucleic acids
from a test sample are commercially available, and examples are
Qiagen's BioRobot 9600, Applied Biosystems' PRISM.TM. 6700 sample
preparation system, and Roche Molecular Systems' COBAS AmpliPrep
System.
[0198] Another form of kit contemplated by the present invention is
a compartmentalized kit. A compartmentalized kit includes any kit
in which reagents are contained in separate containers. Such
containers include, for example, small glass containers, plastic
containers, strips of plastic, glass or paper, or arraying material
such as silica. Such containers allow one to efficiently transfer
reagents from one compartment to another compartment such that the
test samples and reagents are not cross-contaminated, or from one
container to another vessel not included in the kit, and the agents
or solutions of each container can be added in a quantitative
fashion from one compartment to another or to another vessel. Such
containers may include, for example, one or more containers which
will accept the test sample, one or more containers which contain
at least one probe or other SNP detection reagent for detecting one
or more SNPs of the present invention, one or more containers which
contain wash reagents (such as phosphate buffered saline,
Tris-buffers, etc.), and one or more containers which contain the
reagents used to reveal the presence of the bound probe or other
SNP detection reagents. The kit can optionally further comprise
compartments and/or reagents for, for example, nucleic acid
amplification or other enzymatic reactions such as primer extension
reactions, hybridization, ligation, electrophoresis (preferably
capillary electrophoresis), mass spectrometry, and/or laser-induced
fluorescent detection. The kit may also include instructions for
using the kit. Exemplary compartmentalized kits include
microfluidic devices known in the art. See, e.g., Weigl et al.,
"Lab-on-a-chip for drug development," Adv Drug Deliv Rev
55(3):349-77 (February 2003). In such microfluidic devices, the
containers may be referred to as, for example, microfluidic
"compartments," "chambers," or "channels."
[0199] Microfluidic devices, which may also be referred to as
"lab-on-a-chip" systems, biomedical micro-electro-mechanical
systems (bioMEMs), or multicomponent integrated systems, are
exemplary kits/systems of the present invention for analyzing SNPs.
Such systems miniaturize and compartmentalize processes such as
probe/target hybridization, nucleic acid amplification, and
capillary electrophoresis reactions in a single functional device.
Such microfluidic devices typically utilize detection reagents in
at least one aspect of the system, and such detection reagents may
be used to detect one or more SNPs of the present invention. One
example of a microfluidic system is disclosed in U.S. Pat. No.
5,589,136, which describes the integration of PCR amplification and
capillary electrophoresis in chips. Exemplary microfluidic systems
comprise a pattern of microchannels designed onto a glass, silicon,
quartz, or plastic wafer included on a microchip. The movements of
the samples may be controlled by electric, electroosmotic or
hydrostatic forces applied across different areas of the microchip
to create functional microscopic valves and pumps with no moving
parts. Varying the voltage can be used as a means to control the
liquid flow at intersections between the micro-machined channels
and to change the liquid flow rate for pumping across different
sections of the microchip. See, for example, U.S. Pat. Nos.
6,153,073, Dubrow et al., and 6,156,181, Parce et al.
[0200] For genotyping SNPs, an exemplary microfluidic system may
integrate, for example, nucleic acid amplification, primer
extension, capillary electrophoresis, and a detection method such
as laser induced fluorescence detection. In a first step of an
exemplary process for using such an exemplary system, nucleic acid
samples are amplified, preferably by PCR. Then, the amplification
products are subjected to automated primer extension reactions
using ddNTPs (specific fluorescence for each ddNTP) and the
appropriate oligonucleotide primers to carry out primer extension
reactions which hybridize just upstream of the targeted SNP. Once
the extension at the 3' end is completed, the primers are separated
from the unincorporated fluorescent ddNTPs by capillary
electrophoresis. The separation medium used in capillary
electrophoresis can be, for example, polyacrylamide,
polyethyleneglycol or dextran. The incorporated ddNTPs in the
single nucleotide primer extension products are identified by
laser-induced fluorescence detection. Such an exemplary microchip
can be used to process, for example, at least 96 to 384 samples, or
more, in parallel.
[0201] Uses of Nucleic Acid Molecules
[0202] The nucleic acid molecules of the present invention have a
variety of uses, especially for the diagnosis, prognosis,
treatment, and prevention of autoimmune disease (particularly RA),
and for predicting drug response, particularly response to TNF
inhibitors. For example, the nucleic acid molecules of the
invention are useful for predicting an individual's risk for
developing autoimmune disease (particularly the risk for RA), for
prognosing the progression of autoimmune disease (e.g., the
severity or consequences of RA) in an individual, in evaluating the
likelihood of an individual who has autoimmune disease (or who is
at increased risk for autoimmune disease) of responding to
treatment (or prevention) of autoimmune disease with TNF inhibitor,
and/or predicting the likelihood that the individual will
experience toxicity or other undesirable side effects from the TNF
inhibitor treatment, etc. For example, the nucleic acid molecules
are useful as hybridization probes, such as for genotyping SNPs in
messenger RNA, transcript, cDNA, genomic DNA, amplified DNA or
other nucleic acid molecules, and for isolating full-length cDNA
and genomic clones encoding the variant peptides disclosed in Table
1 as well as their orthologs.
[0203] A probe can hybridize to any nucleotide sequence along the
entire length of a nucleic acid molecule referred to in Table 1
and/or Table 2. Preferably, a probe of the present invention
hybridizes to a region of a target sequence that encompasses a SNP
position indicated in Table 1 and/or Table 2. More preferably, a
probe hybridizes to a SNP-containing target sequence in a
sequence-specific manner such that it distinguishes the target
sequence from other nucleotide sequences which vary from the target
sequence only by which nucleotide is present at the SNP site. Such
a probe is particularly useful for detecting the presence of a
SNP-containing nucleic acid in a test sample, or for determining
which nucleotide (allele) is present at a particular SNP site
(i.e., genotyping the SNP site).
[0204] A nucleic acid hybridization probe may be used for
determining the presence, level, form, and/or distribution of
nucleic acid expression. The nucleic acid whose level is determined
can be DNA or RNA. Accordingly, probes specific for the SNPs
described herein can be used to assess the presence, expression
and/or gene copy number in a given cell, tissue, or organism. These
uses are relevant for diagnosis of disorders involving an increase
or decrease in gene expression relative to normal levels. In vitro
techniques for detection of mRNA include, for example, Northern
blot hybridizations and in situ hybridizations. In vitro techniques
for detecting DNA include Southern blot hybridizations and in situ
hybridizations. Sambrook and Russell, Molecular Cloning: A
Laboratory Manual, Cold Spring Harbor Press, N.Y. (2000).
[0205] Probes can be used as part of a diagnostic test kit for
identifying cells or tissues in which a variant protein is
expressed, such as by measuring the level of a variant
protein-encoding nucleic acid (e.g., mRNA) in a sample of cells
from a subject or determining if a polynucleotide contains a SNP of
interest.
[0206] Thus, the nucleic acid molecules of the invention can be
used as hybridization probes to detect the SNPs disclosed herein,
thereby determining whether an individual with the polymorphism(s)
is at risk for developing autoimmune disease (or has already
developed early stage autoimmune disease), or the likelihood that
an individual will respond positively to TNF inhibitor treatment
(including preventive treatment) of autoimmune disease. Detection
of a SNP associated with a disease phenotype provides a diagnostic
tool for an active disease and/or genetic predisposition to the
disease.
[0207] Furthermore, the nucleic acid molecules of the invention are
therefore useful for detecting a gene (gene information is
disclosed in Table 2, for example) which contains a SNP disclosed
herein and/or products of such genes, such as expressed mRNA
transcript molecules (transcript information is disclosed in Table
1, for example), and are thus useful for detecting gene expression.
The nucleic acid molecules can optionally be implemented in, for
example, an array or kit format for use in detecting gene
expression.
[0208] The nucleic acid molecules of the invention are also useful
as primers to amplify any given region of a nucleic acid molecule,
particularly a region containing a SNP identified in Table 1 and/or
Table 2.
[0209] The nucleic acid molecules of the invention are also useful
for constructing recombinant vectors (described in greater detail
below). Such vectors include expression vectors that express a
portion of, or all of, any of the variant peptide sequences
referred to in Table 1. Vectors also include insertion vectors,
used to integrate into another nucleic acid molecule sequence, such
as into the cellular genome, to alter in situ expression of a gene
and/or gene product. For example, an endogenous coding sequence can
be replaced via homologous recombination with all or part of the
coding region containing one or more specifically introduced
SNPs.
[0210] The nucleic acid molecules of the invention are also useful
for expressing antigenic portions of the variant proteins,
particularly antigenic portions that contain a variant amino acid
sequence (e.g., an amino acid substitution) caused by a SNP
disclosed in Table 1 and/or Table 2.
[0211] The nucleic acid molecules of the invention are also useful
for constructing vectors containing a gene regulatory region of the
nucleic acid molecules of the present invention.
[0212] The nucleic acid molecules of the invention are also useful
for designing ribozymes corresponding to all, or a part, of an mRNA
molecule expressed from a SNP-containing nucleic acid molecule
described herein.
[0213] The nucleic acid molecules of the invention are also useful
for constructing host cells expressing a part, or all, of the
nucleic acid molecules and variant peptides.
[0214] The nucleic acid molecules of the invention are also useful
for constructing transgenic animals expressing all, or a part, of
the nucleic acid molecules and variant peptides. The production of
recombinant cells and transgenic animals having nucleic acid
molecules which contain the SNPs disclosed in Table 1 and/or Table
2 allows, for example, effective clinical design of treatment
compounds and dosage regimens.
[0215] The nucleic acid molecules of the invention are also useful
in assays for drug screening to identify compounds that, for
example, modulate nucleic acid expression.
[0216] The nucleic acid molecules of the invention are also useful
in gene therapy in patients whose cells have aberrant gene
expression. Thus, recombinant cells, which include a patient's
cells that have been engineered ex vivo and returned to the
patient, can be introduced into an individual where the recombinant
cells produce the desired protein to treat the individual.
[0217] SNP Genotyping Methods
[0218] The process of determining which nucleotide(s) is/are
present at each of one or more SNP positions (such as a SNP
position disclosed in Table 1 and/or Table 2), for either or both
alleles, may be referred to by such phrases as SNP genotyping,
determining the "identity" of a SNP, determining the "content" of a
SNP, or determining which nucleotide(s)/allele(s) is/are present at
a SNP position. Thus, these terms can refer to detecting a single
allele (nucleotide) at a SNP position or can encompass detecting
both alleles (nucleotides) at a SNP position (such as to determine
the homozygous or heterozygous state of a SNP position).
Furthermore, these terms may also refer to detecting an amino acid
residue encoded by a SNP (such as alternative amino acid residues
that are encoded by different codons created by alternative
nucleotides at a missense SNP position, for example).
[0219] The present invention provides methods of SNP genotyping,
such as for use in evaluating an individual's risk for developing
autoimmune disease (particularly RA), for evaluating an
individual's prognosis for disease severity and recovery, for
predicting the likelihood that an individual who has previously had
autoimmune disease (such as RA) will have a recurrence of
autoimmune disease again in the future, for implementing a
preventive or treatment regimen for an individual based on that
individual having an increased susceptibility for developing
autoimmune disease (e.g., increased risk for RA), in evaluating an
individual's likelihood of responding to TNF inhibitor treatment
(particularly for treating or preventing autoimmune disease), in
selecting a treatment or preventive regimen (e.g., in deciding
whether or not to administer TNF inhibitor treatment to an
individual having autoimmune disease, or who is at increased risk
for developing autoimmune disease in the future), or in formulating
or selecting a particular TNF inhibitor-based treatment or
preventive regimen such as dosage and/or frequency of
administration of TNF inhibitor treatment or choosing which
form/type of TNF inhibitor to be administered, such as a particular
pharmaceutical composition or antibody, fusion protein, small
molecule compound, nucleic acid agent, etc.), determining the
likelihood of experiencing toxicity or other undesirable side
effects from TNF inhibitor treatment, or selecting individuals for
a clinical trial of a TNF inhibitor (e.g., selecting individuals to
participate in the trial who are most likely to respond positively
from the TNF inhibitor treatment and/or excluding individuals from
the trial who are unlikely to respond positively from the TNF
inhibitor treatment based on their SNP genotype(s), or selecting
individuals who are unlikely to respond positively to TNF
inhibitors based on their SNP genotype(s) to participate in a
clinical trial of another type of drug that may benefit them),
etc.
[0220] Nucleic acid samples can be genotyped to determine which
allele(s) is/are present at any given genetic region (e.g., SNP
position) of interest by methods well known in the art. The
neighboring sequence can be used to design SNP detection reagents
such as oligonucleotide probes, which may optionally be implemented
in a kit format. Exemplary SNP genotyping methods are described in
Chen et al., "Single nucleotide polymorphism genotyping:
biochemistry, protocol, cost and throughput," Pharmacogenomics J
3(2):77-96 (2003); Kwok et al., "Detection of single nucleotide
polymorphisms," Curr Issues Mol Biol 5(2):43-60 (April 2003); Shi,
"Technologies for individual genotyping: detection of genetic
polymorphisms in drug targets and disease genes," Am J
Pharmacogenomics 2(3):197-205 (2002); and Kwok, "Methods for
genotyping single nucleotide polymorphisms," Annu Rev Genomics Hum
Genet. 2:235-58 (2001). Exemplary techniques for high-throughput
SNP genotyping are described in Marnellos, "High-throughput SNP
analysis for genetic association studies," Curr Opin Drug Discov
Devel 6(3):317-21 (May 2003). Common SNP genotyping methods
include, but are not limited to, TaqMan assays, molecular beacon
assays, nucleic acid arrays, allele-specific primer extension,
allele-specific PCR, arrayed primer extension, homogeneous primer
extension assays, primer extension with detection by mass
spectrometry, pyrosequencing, multiplex primer extension sorted on
genetic arrays, ligation with rolling circle amplification,
homogeneous ligation, OLA (U.S. Pat. No. 4,988,167), multiplex
ligation reaction sorted on genetic arrays, restriction-fragment
length polymorphism, single base extension-tag assays, and the
Invader assay. Such methods may be used in combination with
detection mechanisms such as, for example, luminescence or
chemiluminescence detection, fluorescence detection, time-resolved
fluorescence detection, fluorescence resonance energy transfer,
fluorescence polarization, mass spectrometry, and electrical
detection.
[0221] Various methods for detecting polymorphisms include, but are
not limited to, methods in which protection from cleavage agents is
used to detect mismatched bases in RNA/RNA or RNA/DNA duplexes
(Myers et al., Science 230:1242 (1985); Cotton et al., PNAS 85:4397
(1988); and Saleeba et al., Meth. Enzymol 217:286-295 (1992)),
comparison of the electrophoretic mobility of variant and wild type
nucleic acid molecules (Orita et al., PNAS 86:2766 (1989); Cotton
et al., Mutat Res 285:125-144 (1993); and Hayashi et al., Genet
Anal Tech Appl 9:73-79 (1992)), and assaying the movement of
polymorphic or wild-type fragments in polyacrylamide gels
containing a gradient of denaturant using denaturing gradient gel
electrophoresis (DGGE) (Myers et al., Nature 313:495 (1985)).
Sequence variations at specific locations can also be assessed by
nuclease protection assays such as RNase and S1 protection or
chemical cleavage methods.
[0222] In a preferred embodiment, SNP genotyping is performed using
the TaqMan assay, which is also known as the 5' nuclease assay
(U.S. Pat. Nos. 5,210,015 and 5,538,848). The TaqMan assay detects
the accumulation of a specific amplified product during PCR. The
TaqMan assay utilizes an oligonucleotide probe labeled with a
fluorescent reporter dye and a quencher dye. The reporter dye is
excited by irradiation at an appropriate wavelength, it transfers
energy to the quencher dye in the same probe via a process called
fluorescence resonance energy transfer (FRET). When attached to the
probe, the excited reporter dye does not emit a signal. The
proximity of the quencher dye to the reporter dye in the intact
probe maintains a reduced fluorescence for the reporter. The
reporter dye and quencher dye may be at the 5' most and the 3' most
ends, respectively, or vice versa. Alternatively, the reporter dye
may be at the 5' or 3' most end while the quencher dye is attached
to an internal nucleotide, or vice versa. In yet another
embodiment, both the reporter and the quencher may be attached to
internal nucleotides at a distance from each other such that
fluorescence of the reporter is reduced.
[0223] During PCR, the 5' nuclease activity of DNA polymerase
cleaves the probe, thereby separating the reporter dye and the
quencher dye and resulting in increased fluorescence of the
reporter. Accumulation of PCR product is detected directly by
monitoring the increase in fluorescence of the reporter dye. The
DNA polymerase cleaves the probe between the reporter dye and the
quencher dye only if the probe hybridizes to the target
SNP-containing template which is amplified during PCR, and the
probe is designed to hybridize to the target SNP site only if a
particular SNP allele is present.
[0224] Preferred TaqMan primer and probe sequences can readily be
determined using the SNP and associated nucleic acid sequence
information provided herein. A number of computer programs, such as
Primer Express (Applied Biosystems, Foster City, Calif.), can be
used to rapidly obtain optimal primer/probe sets. It will be
apparent to one of skill in the art that such primers and probes
for detecting the SNPs of the present invention are useful in, for
example, screening for individuals who are susceptible to
developing autoimmune disease (particularly RA) and related
pathologies, or in screening individuals who have autoimmune
disease (or who are susceptible to autoimmune disease) for their
likelihood of responding to TNF inhibitor treatment. These probes
and primers can be readily incorporated into a kit format. The
present invention also includes modifications of the Taqman assay
well known in the art such as the use of Molecular Beacon probes
(U.S. Pat. Nos. 5,118,801 and 5,312,728) and other variant formats
(U.S. Pat. Nos. 5,866,336 and 6,117,635).
[0225] Another preferred method for genotyping the SNPs of the
present invention is the use of two oligonucleotide probes in an
OLA (see, e.g., U.S. Pat. No. 4,988,617). In this method, one probe
hybridizes to a segment of a target nucleic acid with its 3' most
end aligned with the SNP site. A second probe hybridizes to an
adjacent segment of the target nucleic acid molecule directly 3' to
the first probe. The two juxtaposed probes hybridize to the target
nucleic acid molecule, and are ligated in the presence of a linking
agent such as a ligase if there is perfect complementarity between
the 3' most nucleotide of the first probe with the SNP site. If
there is a mismatch, ligation would not occur. After the reaction,
the ligated probes are separated from the target nucleic acid
molecule, and detected as indicators of the presence of a SNP.
[0226] The following patents, patent applications, and published
international patent applications, which are all hereby
incorporated by reference, provide additional information
pertaining to techniques for carrying out various types of OLA. The
following U.S. patents describe OLA strategies for performing SNP
detection: Nos. 6,027,889; 6,268,148; 5,494,810; 5,830,711 and
6,054,564. WO 97/31256 and WO 00/56927 describe OLA strategies for
performing SNP detection using universal arrays, wherein a zipcode
sequence can be introduced into one of the hybridization probes,
and the resulting product, or amplified product, hybridized to a
universal zip code array. U.S. application US01/17329 (and
09/584,905) describes OLA (or LDR) followed by PCR, wherein
zipcodes are incorporated into OLA probes, and amplified PCR
products are determined by electrophoretic or universal zipcode
array readout. U.S. applications 60/427,818, 60/445,636, and
60/445,494 describe SNPlex methods and software for multiplexed SNP
detection using OLA followed by PCR, wherein zipcodes are
incorporated into OLA probes, and amplified PCR products are
hybridized with a zipchute reagent, and the identity of the SNP
determined from electrophoretic readout of the zipchute. In some
embodiments, OLA is carried out prior to PCR (or another method of
nucleic acid amplification). In other embodiments, PCR (or another
method of nucleic acid amplification) is carried out prior to
OLA.
[0227] Another method for SNP genotyping is based on mass
spectrometry. Mass spectrometry takes advantage of the unique mass
of each of the four nucleotides of DNA. SNPs can be unambiguously
genotyped by mass spectrometry by measuring the differences in the
mass of nucleic acids having alternative SNP alleles. MALDI-TOF
(Matrix Assisted Laser Desorption Ionization-Time of Flight) mass
spectrometry technology is preferred for extremely precise
determinations of molecular mass, such as SNPs. Numerous approaches
to SNP analysis have been developed based on mass spectrometry.
Preferred mass spectrometry-based methods of SNP genotyping include
primer extension assays, which can also be utilized in combination
with other approaches, such as traditional gel-based formats and
microarrays.
[0228] Typically, the primer extension assay involves designing and
annealing a primer to a template PCR amplicon upstream (5') from a
target SNP position. A mix of dideoxynucleotide triphosphates
(ddNTPs) and/or deoxynucleotide triphosphates (dNTPs) are added to
a reaction mixture containing template (e.g., a SNP-containing
nucleic acid molecule which has typically been amplified, such as
by PCR), primer, and DNA polymerase. Extension of the primer
terminates at the first position in the template where a nucleotide
complementary to one of the ddNTPs in the mix occurs. The primer
can be either immediately adjacent (i.e., the nucleotide at the 3'
end of the primer hybridizes to the nucleotide next to the target
SNP site) or two or more nucleotides removed from the SNP position.
If the primer is several nucleotides removed from the target SNP
position, the only limitation is that the template sequence between
the 3' end of the primer and the SNP position cannot contain a
nucleotide of the same type as the one to be detected, or this will
cause premature termination of the extension primer. Alternatively,
if all four ddNTPs alone, with no dNTPs, are added to the reaction
mixture, the primer will always be extended by only one nucleotide,
corresponding to the target SNP position. In this instance, primers
are designed to bind one nucleotide upstream from the SNP position
(i.e., the nucleotide at the 3' end of the primer hybridizes to the
nucleotide that is immediately adjacent to the target SNP site on
the 5' side of the target SNP site). Extension by only one
nucleotide is preferable, as it minimizes the overall mass of the
extended primer, thereby increasing the resolution of mass
differences between alternative SNP nucleotides. Furthermore,
mass-tagged ddNTPs can be employed in the primer extension
reactions in place of unmodified ddNTPs. This increases the mass
difference between primers extended with these ddNTPs, thereby
providing increased sensitivity and accuracy, and is particularly
useful for typing heterozygous base positions. Mass-tagging also
alleviates the need for intensive sample-preparation procedures and
decreases the necessary resolving power of the mass
spectrometer.
[0229] The extended primers can then be purified and analyzed by
MALDI-TOF mass spectrometry to determine the identity of the
nucleotide present at the target SNP position. In one method of
analysis, the products from the primer extension reaction are
combined with light absorbing crystals that form a matrix. The
matrix is then hit with an energy source such as a laser to ionize
and desorb the nucleic acid molecules into the gas-phase. The
ionized molecules are then ejected into a flight tube and
accelerated down the tube towards a detector. The time between the
ionization event, such as a laser pulse, and collision of the
molecule with the detector is the time of flight of that molecule.
The time of flight is precisely correlated with the mass-to-charge
ratio (m/z) of the ionized molecule. Ions with smaller m/z travel
down the tube faster than ions with larger m/z and therefore the
lighter ions reach the detector before the heavier ions. The
time-of-flight is then converted into a corresponding, and highly
precise, m/z. In this manner, SNPs can be identified based on the
slight differences in mass, and the corresponding time of flight
differences, inherent in nucleic acid molecules having different
nucleotides at a single base position. For further information
regarding the use of primer extension assays in conjunction with
MALDI-TOF mass spectrometry for SNP genotyping, see, e.g., Wise et
al., "A standard protocol for single nucleotide primer extension in
the human genome using matrix-assisted laser desorption/ionization
time-of-flight mass spectrometry," Rapid Commun Mass Spectrom
17(11):1195-202 (2003).
[0230] The following references provide further information
describing mass spectrometry-based methods for SNP genotyping:
Bocker, "SNP and mutation discovery using base-specific cleavage
and MALDI-TOF mass spectrometry," Bioinformatics 19 Suppl 1:144-153
(July 2003); Storm et al., "MALDI-TOF mass spectrometry-based SNP
genotyping," Methods Mol Biol 212:241-62 (2003); Jurinke et al.,
"The use of Mass ARRAY technology for high throughput genotyping,"
Adv Biochem Eng Biotechnol 77:57-74 (2002); and Jurinke et al.,
"Automated genotyping using the DNA MassArray technology," Methods
Mol Biol 187:179-92 (2002).
[0231] SNPs can also be scored by direct DNA sequencing. A variety
of automated sequencing procedures can be utilized (e.g.
Biotechniques 19:448 (1995)), including sequencing by mass
spectrometry. See, e.g., PCT International Publication No. WO
94/16101; Cohen et al., Adv Chromatogr 36:127-162 (1996); and
Griffin et al., Appl Biochem Biotechnol 38:147-159 (1993). The
nucleic acid sequences of the present invention enable one of
ordinary skill in the art to readily design sequencing primers for
such automated sequencing procedures. Commercial instrumentation,
such as the Applied Biosystems 377, 3100, 3700, 3730, and
3730.times.1 DNA Analyzers (Foster City, Calif.), is commonly used
in the art for automated sequencing.
[0232] Other methods that can be used to genotype the SNPs of the
present invention include single-strand conformational polymorphism
(SSCP), and denaturing gradient gel electrophoresis (DGGE). Myers
et al., Nature 313:495 (1985). SSCP identifies base differences by
alteration in electrophoretic migration of single stranded PCR
products, as described in Orita et al., Proc. Nat. Acad.
Single-stranded PCR products can be generated by heating or
otherwise denaturing double stranded PCR products. Single-stranded
nucleic acids may refold or form secondary structures that are
partially dependent on the base sequence. The different
electrophoretic mobilities of single-stranded amplification
products are related to base-sequence differences at SNP positions.
DGGE differentiates SNP alleles based on the different
sequence-dependent stabilities and melting properties inherent in
polymorphic DNA and the corresponding differences in
electrophoretic migration patterns in a denaturing gradient gel.
PCR Technology: Principles and Applications for DNA Amplification
Chapter 7, Erlich, ed., W.H. Freeman and Co, N.Y. (1992).
[0233] Sequence-specific ribozymes (U.S. Pat. No. 5,498,531) can
also be used to score SNPs based on the development or loss of a
ribozyme cleavage site. Perfectly matched sequences can be
distinguished from mismatched sequences by nuclease cleavage
digestion assays or by differences in melting temperature. If the
SNP affects a restriction enzyme cleavage site, the SNP can be
identified by alterations in restriction enzyme digestion patterns,
and the corresponding changes in nucleic acid fragment lengths
determined by gel electrophoresis.
[0234] SNP genotyping can include the steps of, for example,
collecting a biological sample from a human subject (e.g., sample
of tissues, cells, fluids, secretions, etc.), isolating nucleic
acids (e.g., genomic DNA, mRNA or both) from the cells of the
sample, contacting the nucleic acids with one or more primers which
specifically hybridize to a region of the isolated nucleic acid
containing a target SNP under conditions such that hybridization
and amplification of the target nucleic acid region occurs, and
determining the nucleotide present at the SNP position of interest,
or, in some assays, detecting the presence or absence of an
amplification product (assays can be designed so that hybridization
and/or amplification will only occur if a particular SNP allele is
present or absent). In some assays, the size of the amplification
product is detected and compared to the length of a control sample;
for example, deletions and insertions can be detected by a change
in size of the amplified product compared to a normal genotype.
[0235] SNP genotyping is useful for numerous practical
applications, as described below. Examples of such applications
include, but are not limited to, SNP-disease association analysis,
disease predisposition screening, disease diagnosis, disease
prognosis, disease progression monitoring, determining therapeutic
strategies based on an individual's genotype ("pharmacogenomics"),
developing therapeutic agents based on SNP genotypes associated
with a disease or likelihood of responding to a drug, stratifying
patient populations for clinical trials of a therapeutic,
preventive, or diagnostic agent, predicting the likelihood that an
individual will experience toxic side effects from a therapeutic
agent, and human identification applications such as forensics.
[0236] Analysis of Genetic Associations between SNPs and Phenotypic
Traits
[0237] SNP genotyping for disease diagnosis, disease predisposition
screening, disease prognosis, determining drug responsiveness
(pharmacogenomics), drug toxicity screening, and other uses
described herein, typically relies on initially establishing a
genetic association between one or more specific SNPs and the
particular phenotypic traits of interest.
[0238] Different study designs may be used for genetic association
studies. Modern Epidemiology 609-622, Lippincott, Williams &
Wilkins (1998). Observational studies are most frequently carried
out in which the response of the patients is not interfered with.
The first type of observational study identifies a sample of
persons in whom the suspected cause of the disease is present and
another sample of persons in whom the suspected cause is absent,
and then the frequency of development of disease in the two samples
is compared. These sampled populations are called cohorts, and the
study is a prospective study. The other type of observational study
is case-control or a retrospective study. In typical case-control
studies, samples are collected from individuals with the phenotype
of interest (cases) such as certain manifestations of a disease,
and from individuals without the phenotype (controls) in a
population (target population) that conclusions are to be drawn
from. Then the possible causes of the disease are investigated
retrospectively. As the time and costs of collecting samples in
case-control studies are considerably less than those for
prospective studies, case-control studies are the more commonly
used study design in genetic association studies, at least during
the exploration and discovery stage.
[0239] In both types of observational studies, there may be
potential confounding factors that should be taken into
consideration. Confounding factors are those that are associated
with both the real cause(s) of the disease and the disease itself,
and they include demographic information such as age, gender,
ethnicity as well as environmental factors. When confounding
factors are not matched in cases and controls in a study, and are
not controlled properly, spurious association results can arise. If
potential confounding factors are identified, they should be
controlled for by analysis methods explained below.
[0240] In a genetic association study, the cause of interest to be
tested is a certain allele or a SNP or a combination of alleles or
a haplotype from several SNPs. Thus, tissue specimens (e.g., whole
blood) from the sampled individuals may be collected and genomic
DNA genotyped for the SNP(s) of interest. In addition to the
phenotypic trait of interest, other information such as demographic
(e.g., age, gender, ethnicity, etc.), clinical, and environmental
information that may influence the outcome of the trait can be
collected to further characterize and define the sample set. In
many cases, these factors are known to be associated with diseases
and/or SNP allele frequencies. There are likely gene-environment
and/or gene-gene interactions as well. Analysis methods to address
gene-environment and gene-gene interactions (for example, the
effects of the presence of both susceptibility alleles at two
different genes can be greater than the effects of the individual
alleles at two genes combined) are discussed below.
[0241] After all the relevant phenotypic and genotypic information
has been obtained, statistical analyses are carried out to
determine if there is any significant correlation between the
presence of an allele or a genotype with the phenotypic
characteristics of an individual. Preferably, data inspection and
cleaning are first performed before carrying out statistical tests
for genetic association. Epidemiological and clinical data of the
samples can be summarized by descriptive statistics with tables and
graphs. Data validation is preferably performed to check for data
completion, inconsistent entries, and outliers. Chi-squared tests
and t-tests (Wilcoxon rank-sum tests if distributions are not
normal) may then be used to check for significant differences
between cases and controls for discrete and continuous variables,
respectively. To ensure genotyping quality, Hardy-Weinberg
disequilibrium tests can be performed on cases and controls
separately. Significant deviation from Hardy-Weinberg equilibrium
(HWE) in both cases and controls for individual markers can be
indicative of genotyping errors. If HWE is violated in a majority
of markers, it is indicative of population substructure that should
be further investigated. Moreover, Hardy-Weinberg disequilibrium in
cases only can indicate genetic association of the markers with the
disease. B. Weir, Genetic Data Analysis, Sinauer (1990).
[0242] To test whether an allele of a single SNP is associated with
the case or control status of a phenotypic trait, one skilled in
the art can compare allele frequencies in cases and controls.
Standard chi-squared tests and Fisher exact tests can be carried
out on a 2.times.2 table (2 SNP alleles.times.2 outcomes in the
categorical trait of interest). To test whether genotypes of a SNP
are associated, chi-squared tests can be carried out on a 3.times.2
table (3 genotypes.times.2 outcomes). Score tests are also carried
out for genotypic association to contrast the three genotypic
frequencies (major homozygotes, heterozygotes and minor
homozygotes) in cases and controls, and to look for trends using 3
different modes of inheritance, namely dominant (with contrast
coefficients 2, -1, -1), additive or allelic (with contrast
coefficients 1, 0, -1) and recessive (with contrast coefficients 1,
1, -2). Odds ratios for minor versus major alleles, and odds ratios
for heterozygote and homozygote variants versus the wild type
genotypes are calculated with the desired confidence limits,
usually 95%.
[0243] In order to control for confounders and to test for
interaction and effect modifiers, stratified analyses may be
performed using stratified factors that are likely to be
confounding, including demographic information such as age,
ethnicity, and gender, or an interacting element or effect
modifier, such as a known major gene (e.g., APOE for Alzheimer's
disease or HLA genes for autoimmune diseases), or environmental
factors such as smoking in lung cancer. Stratified association
tests may be carried out using Cochran-Mantel-Haenszel tests that
take into account the ordinal nature of genotypes with 0, 1, and 2
variant alleles. Exact tests by StatXact may also be performed when
computationally possible. Another way to adjust for confounding
effects and test for interactions is to perform stepwise multiple
logistic regression analysis using statistical packages such as SAS
or R. Logistic regression is a model-building technique in which
the best fitting and most parsimonious model is built to describe
the relation between the dichotomous outcome (for instance, getting
a certain disease or not) and a set of independent variables (for
instance, genotypes of different associated genes, and the
associated demographic and environmental factors). The most common
model is one in which the logit transformation of the odds ratios
is expressed as a linear combination of the variables (main
effects) and their cross-product terms (interactions). Hosmer and
Lemeshow, Applied Logistic Regression, Wiley (2000). To test
whether a certain variable or interaction is significantly
associated with the outcome, coefficients in the model are first
estimated and then tested for statistical significance of their
departure from zero.
[0244] In addition to performing association tests one marker at a
time, haplotype association analysis may also be performed to study
a number of markers that are closely linked together. Haplotype
association tests can have better power than genotypic or allelic
association tests when the tested markers are not the
disease-causing mutations themselves but are in linkage
disequilibrium with such mutations. The test will even be more
powerful if the disease is indeed caused by a combination of
alleles on a haplotype (e.g., APOE is a haplotype formed by 2 SNPs
that are very close to each other). In order to perform haplotype
association effectively, marker-marker linkage disequilibrium
measures, both D' and r.sup.2, are typically calculated for the
markers within a gene to elucidate the haplotype structure. Recent
studies in linkage disequilibrium indicate that SNPs within a gene
are organized in block pattern, and a high degree of linkage
disequilibrium exists within blocks and very little linkage
disequilibrium exists between blocks. Daly et al, Nature Genetics
29:232-235 (2001). Haplotype association with the disease status
can be performed using such blocks once they have been
elucidated.
[0245] Haplotype association tests can be carried out in a similar
fashion as the allelic and genotypic association tests. Each
haplotype in a gene is analogous to an allele in a multi-allelic
marker. One skilled in the art can either compare the haplotype
frequencies in cases and controls or test genetic association with
different pairs of haplotypes. It has been proposed that score
tests can be done on haplotypes using the program "haplo.score."
Schaid et al, Am J Hum Genet. 70:425-434 (2002). In that method,
haplotypes are first inferred by EM algorithm and score tests are
carried out with a generalized linear model (GLM) framework that
allows the adjustment of other factors.
[0246] An important decision in the performance of genetic
association tests is the determination of the significance level at
which significant association can be declared when the P value of
the tests reaches that level. In an exploratory analysis where
positive hits will be followed up in subsequent confirmatory
testing, an unadjusted P value <0.2 (a significance level on the
lenient side), for example, may be used for generating hypotheses
for significant association of a SNP with certain phenotypic
characteristics of a disease. It is preferred that a p-value
<0.05 (a significance level traditionally used in the art) is
achieved in order for a SNP to be considered to have an association
with a disease. It is more preferred that a p-value <0.01 (a
significance level on the stringent side) is achieved for an
association to be declared. When hits are followed up in
confirmatory analyses in more samples of the same source or in
different samples from different sources, adjustment for multiple
testing will be performed as to avoid excess number of hits while
maintaining the experiment-wide error rates at 0.05. While there
are different methods to adjust for multiple testing to control for
different kinds of error rates, a commonly used but rather
conservative method is Bonferroni correction to control the
experiment-wise or family-wise error rate. Westfall et al.,
Multiple comparisons and multiple tests, SAS Institute (1999).
Permutation tests to control for the false discovery rates, FDR,
can be more powerful. Benjamini and Hochberg, Journal of the Royal
Statistical Society, Series B 57:1289-1300 (1995); Westfall and
Young, Resampling-based Multiple Testing, Wiley (1993). Such
methods to control for multiplicity would be preferred when the
tests are dependent and controlling for false discovery rates is
sufficient as opposed to controlling for the experiment-wise error
rates.
[0247] In replication studies using samples from different
populations after statistically significant markers have been
identified in the exploratory stage, meta-analyses can then be
performed by combining evidence of different studies. Modern
Epidemiology 643-673, Lippincott, Williams & Wilkins (1998). If
available, association results known in the art for the same SNPs
can be included in the meta-analyses.
[0248] Since both genotyping and disease status classification can
involve errors, sensitivity analyses may be performed to see how
odds ratios and p-values would change upon various estimates on
genotyping and disease classification error rates.
[0249] It has been well known that subpopulation-based sampling
bias between cases and controls can lead to spurious results in
case-control association studies when prevalence of the disease is
associated with different subpopulation groups. Ewens and Spielman,
Am J Hum Genet. 62:450-458 (1995). Such bias can also lead to a
loss of statistical power in genetic association studies. To detect
population stratification, Pritchard and Rosenberg suggested typing
markers that are unlinked to the disease and using results of
association tests on those markers to determine whether there is
any population stratification. Pritchard et al., Am J Hum Gen
65:220-228 (1999). When stratification is detected, the genomic
control (GC) method as proposed by Devlin and Roeder can be used to
adjust for the inflation of test statistics due to population
stratification. Devlin et al., Biometrics 55:997-1004 (1999). The
GC method is robust to changes in population structure levels as
well as being applicable to DNA pooling designs. Devlin et al.,
Genet Epidem 21:273-284 (2001).
[0250] While Pritchard's method recommended using 15-20 unlinked
microsatellite markers, it suggested using more than 30 biallelic
markers to get enough power to detect population stratification.
For the GC method, it has been shown that about 60-70 biallelic
markers are sufficient to estimate the inflation factor for the
test statistics due to population stratification. Bacanu et al., Am
J Hum Genet. 66:1933-1944 (2000). Hence, 70 intergenic SNPs can be
chosen in unlinked regions as indicated in a genome scan. Kehoe et
al., Hum Mol Genet. 8:237-245 (1999).
[0251] Once individual risk factors, genetic or non-genetic, have
been found for the predisposition to disease, the next step is to
set up a classification/prediction scheme to predict the category
(for instance, disease or no-disease) that an individual will be in
depending on his genotypes of associated SNPs and other non-genetic
risk factors. Logistic regression for discrete trait and linear
regression for continuous trait are standard techniques for such
tasks. Draper and Smith, Applied Regression Analysis, Wiley (1998).
Moreover, other techniques can also be used for setting up
classification. Such techniques include, but are not limited to,
MART, CART, neural network, and discriminant analyses that are
suitable for use in comparing the performance of different methods.
The Elements of Statistical Learning, Hastie, Tibshirani &
Friedman, Springer (2002).
[0252] Disease Diagnosis and Predisposition Screening
[0253] Information on association/correlation between genotypes and
disease-related phenotypes can be exploited in several ways. For
example, in the case of a highly statistically significant
association between one or more SNPs with predisposition to a
disease for which treatment is available, detection of such a
genotype pattern in an individual may justify immediate
administration of treatment, or at least the institution of regular
monitoring of the individual. Detection of the susceptibility
alleles associated with serious disease in a couple contemplating
having children may also be valuable to the couple in their
reproductive decisions. In the case of a weaker but still
statistically significant association between a SNP and a human
disease, immediate therapeutic intervention or monitoring may not
be justified after detecting the susceptibility allele or SNP.
Nevertheless, the subject can be motivated to begin simple
life-style changes (e.g., diet, exercise) that can be accomplished
at little or no cost to the individual but would confer potential
benefits in reducing the risk of developing conditions for which
that individual may have an increased risk by virtue of having the
risk allele(s).
[0254] The SNPs of the invention may contribute to the development
of autoimmune disease (e.g., RA), or to responsiveness of an
individual to TNF inhibitor treatment, in different ways. Some
polymorphisms occur within a protein coding sequence and contribute
to disease phenotype by affecting protein structure. Other
polymorphisms occur in noncoding regions but may exert phenotypic
effects indirectly via influence on, for example, replication,
transcription, and/or translation. A single SNP may affect more
than one phenotypic trait. Likewise, a single phenotypic trait may
be affected by multiple SNPs in different genes.
[0255] As used herein, the terms "diagnose," "diagnosis," and
"diagnostics" include, but are not limited to, any of the
following: detection of autoimmune disease (such as RA) that an
individual may presently have,
predisposition/susceptibility/predictive screening (i.e.,
determining whether an individual has an increased or decreased
risk of developing autoimmune disease in the future), prognosing
the future course of autoimmune disease or recurrence of autoimmune
disease in an individual, determining a particular type or subclass
of autoimmune disease in an individual who currently or previously
had autoimmune disease, confirming or reinforcing a previously made
diagnosis of autoimmune disease, evaluating an individual's
likelihood of responding positively to a particular treatment or
therapeutic agent such as TNF inhibitor treatment (particularly
treatment or prevention of autoimmune disease using TNF
inhibitors), determining or selecting a therapeutic or preventive
strategy that an individual is most likely to positively respond to
(e.g., selecting a particular therapeutic agent such as a TNF
inhibitor, or combination of therapeutic agents, or determining a
dosing regimen, etc.), classifying (or confirming/reinforcing) an
individual as a responder/non-responder (or determining a
particular subtype of responder/non-responder) with respect to the
individual's response to a drug treatment such as TNF inhibitor
treatment, and predicting whether a patient is likely to experience
toxic effects from a particular treatment or therapeutic compound.
Such diagnostic uses can be based on the SNPs individually or in a
unique combination or SNP haplotypes of the present invention.
[0256] Haplotypes are particularly useful in that, for example,
fewer SNPs can be genotyped to determine if a particular genomic
region harbors a locus that influences a particular phenotype, such
as in linkage disequilibrium-based SNP association analysis.
[0257] Linkage disequilibrium (LD) refers to the co-inheritance of
alleles (e.g., alternative nucleotides) at two or more different
SNP sites at frequencies greater than would be expected from the
separate frequencies of occurrence of each allele in a given
population. The expected frequency of co-occurrence of two alleles
that are inherited independently is the frequency of the first
allele multiplied by the frequency of the second allele. Alleles
that co-occur at expected frequencies are said to be in "linkage
equilibrium." In contrast, LD refers to any non-random genetic
association between allele(s) at two or more different SNP sites,
which is generally due to the physical proximity of the two loci
along a chromosome. LD can occur when two or more SNPs sites are in
close physical proximity to each other on a given chromosome and
therefore alleles at these SNP sites will tend to remain
unseparated for multiple generations with the consequence that a
particular nucleotide (allele) at one SNP site will show a
non-random association with a particular nucleotide (allele) at a
different SNP site located nearby. Hence, genotyping one of the SNP
sites will give almost the same information as genotyping the other
SNP site that is in LD.
[0258] Various degrees of LD can be encountered between two or more
SNPs with the result being that some SNPs are more closely
associated (i.e., in stronger LD) than others. Furthermore, the
physical distance over which LD extends along a chromosome differs
between different regions of the genome, and therefore the degree
of physical separation between two or more SNP sites necessary for
LD to occur can differ between different regions of the genome.
[0259] For diagnostic purposes and similar uses, if a particular
SNP site is found to be useful for, for example, predicting an
individual's susceptibility to autoimmune disease or an
individual's response to TNF inhibitor treatment, then the skilled
artisan would recognize that other SNP sites which are in LD with
this SNP site would also be useful for the same purposes. Thus,
polymorphisms (e.g., SNPs and/or haplotypes) that are not the
actual disease-causing (causative) polymorphisms, but are in LD
with such causative polymorphisms, are also useful. In such
instances, the genotype of the polymorphism(s) that is/are in LD
with the causative polymorphism is predictive of the genotype of
the causative polymorphism and, consequently, predictive of the
phenotype (e.g., autoimmune disease, or responder/non-responder to
a drug treatment) that is influenced by the causative SNP(s).
Therefore, polymorphic markers that are in LD with causative
polymorphisms are useful as diagnostic markers, and are
particularly useful when the actual causative polymorphism(s)
is/are unknown.
[0260] Examples of polymorphisms that can be in LD with one or more
causative polymorphisms (and/or in LD with one or more
polymorphisms that have a significant statistical association with
a condition) and therefore useful for diagnosing the same condition
that the causative/associated SNP(s) is used to diagnose, include
other SNPs in the same gene, protein-coding, or mRNA
transcript-coding region as the causative/associated SNP, other
SNPs in the same exon or same intron as the causative/associated
SNP, other SNPs in the same haplotype block as the
causative/associated SNP, other SNPs in the same intergenic region
as the causative/associated SNP, SNPs that are outside but near a
gene (e.g., within 6 kb on either side, 5' or 3', of a gene
boundary) that harbors a causative/associated SNP, etc. Such useful
LD SNPs can be selected from among the SNPs disclosed in Tables 1
and 2, for example.
[0261] Linkage disequilibrium in the human genome is reviewed in
Wall et al., "Haplotype blocks and linkage disequilibrium in the
human genome," Nat Rev Genet. 4(8):587-97 (August 2003); Garner et
al., "On selecting markers for association studies: patterns of
linkage disequilibrium between two and three diallelic loci," Genet
Epidemiol 24(1):57-67 (January 2003); Ardlie et al., "Patterns of
linkage disequilibrium in the human genome," Nat Rev Genet.
3(4):299-309 (April 2002); erratum in Nat Rev Genet. 3(7):566 (July
2002); and Remm et al., "High-density genotyping and linkage
disequilibrium in the human genome using chromosome 22 as a model,"
Curr Opin Chem Biol 6(1):24-30 (February 2002); J. B. S. Haldane,
"The combination of linkage values, and the calculation of
distances between the loci of linked factors," J Genet. 8:299-309
(1919); G. Mendel, Versuche uber Pflanzen-Hybriden. Verhandlungen
des naturforschenden Vereines in Brunn (Proceedings of the Natural
History Society of Brunn) (1866); Genes IV, B. Lewin, ed., Oxford
University Press, N.Y. (1990); D. L. Hartl and A. G. Clark
Principles of Population Genetics 2.sup.nd ed., Sinauer Associates,
Inc., Mass. (1989); J. H. Gillespie Population Genetics: A Concise
Guide. 2.sup.nd ed., Johns Hopkins University Press (2004); R. C.
Lewontin, "The interaction of selection and linkage. I. General
considerations; heterotic models," Genetics 49:49-67 (1964); P. G.
Hoel, Introduction to Mathematical Statistics 2.sup.nd ed., John
Wiley & Sons, Inc., N.Y. (1954); R. R. Hudson, "Two-locus
sampling distributions and their application," Genetics
159:1805-1817 (2001); A. P. Dempster, N. M. Laird, D. B. Rubin,
"Maximum likelihood from incomplete data via the EM algorithm," J R
Stat Soc 39:1-38 (1977); L. Excoffier, M. Slatkin,
"Maximum-likelihood estimation of molecular haplotype frequencies
in a diploid population," Mol Biol Evol 12(5):921-927 (1995); D. A.
Tregouet, S. Escolano, L. Tiret, A. Mallet, J. L. Golmard, "A new
algorithm for haplotype-based association analysis: the
Stochastic-EM algorithm," Ann Hum Genet. 68(Pt 2):165-177 (2004);
A. D. Long and C. H. Langley C H, "The power of association studies
to detect the contribution of candidate genetic loci to variation
in complex traits," Genome Research 9:720-731 (1999); A. Agresti,
Categorical Data Analysis, John Wiley & Sons, Inc., N.Y.
(1990); K. Lange, Mathematical and Statistical Methods for Genetic
Analysis, Springer-Verlag New York, Inc., N.Y. (1997); The
International HapMap Consortium, "The International HapMap
Project," Nature 426:789-796 (2003); The International HapMap
Consortium, "A haplotype map of the human genome," Nature
437:1299-1320 (2005); G. A. Thorisson, A. V. Smith, L. Krishnan, L.
D. Stein, "The International HapMap Project Web Site," Genome
Research 15:1591-1593 (2005); G. McVean, C. C. A. Spencer, R.
Chaix, "Perspectives on human genetic variation from the HapMap
project," PLoS Genetics 1(4):413-418 (2005); J. N. Hirschhorn, M.
J. Daly, "Genome-wide association studies for common diseases and
complex traits," Nat Genet. 6:95-108 (2005); S. J. Schrodi, "A
probabilistic approach to large-scale association scans: a
semi-Bayesian method to detect disease-predisposing alleles," SAGMB
4(1):31 (2005); W. Y. S. Wang, B. J. Barratt, D. G. Clayton, J. A.
Todd, "Genome-wide association studies: theoretical and practical
concerns," Nat Rev Genet. 6:109-118 (2005); J. K. Pritchard, M.
Przeworski, "Linkage disequilibrium in humans: models and data," Am
J Hum Genet. 69:1-14 (2001).
[0262] As discussed above, one aspect of the present invention is
the discovery that SNPs that are in certain LD distance with an
interrogated SNP can also be used as valid markers for determining
whether an individual has an increased or decreased risk of having
or developing autoimmune disease, or an individual's likelihood of
benefiting from a drug treatment such as TNF inhibitor treatment.
As used herein, the term "interrogated SNP" refers to SNPs that
have been found to be associated with an increased or decreased
risk of disease using genotyping results and analysis, or other
appropriate experimental method as exemplified in the working
examples described in this application. As used herein, the term
"LD SNP" refers to a SNP that has been characterized as a SNP
associating with an increased or decreased risk of diseases due to
their being in LD with the "interrogated SNP" under the methods of
calculation described in the application. Below, applicants
describe the methods of calculation with which one of ordinary
skilled in the art may determine if a particular SNP is in LD with
an interrogated SNP. The parameter r.sup.2 is commonly used in the
genetics art to characterize the extent of linkage disequilibrium
between markers (Hudson, 2001). As used herein, the term "in LD
with" refers to a particular SNP that is measured at above the
threshold of a parameter such as r.sup.2 with an interrogated
SNP.
[0263] It is now common place to directly observe genetic variants
in a sample of chromosomes obtained from a population. Suppose one
has genotype data at two genetic markers located on the same
chromosome, for the markers A and B. Further suppose that two
alleles segregate at each of these two markers such that alleles
A.sub.1 and A.sub.2 can be found at marker A and alleles B.sub.1
and B.sub.2 at marker B. Also assume that these two markers are on
a human autosome. If one is to examine a specific individual and
find that they are heterozygous at both markers, such that their
two-marker genotype is A.sub.1A.sub.2B.sub.1B.sub.2, then there are
two possible configurations: the individual in question could have
the alleles A.sub.1B.sub.1 on one chromosome and A.sub.2B.sub.2 on
the remaining chromosome; alternatively, the individual could have
alleles A.sub.1B.sub.2 on one chromosome and A.sub.2B.sub.1 on the
other. The arrangement of alleles on a chromosome is called a
haplotype. In this illustration, the individual could have
haplotypes A.sub.1B.sub.1/A.sub.2B.sub.2 or
A.sub.1B.sub.2/A.sub.2B.sub.1 (see Hartl and Clark (1989) for a
more complete description). The concept of linkage equilibrium
relates the frequency of haplotypes to the allele frequencies.
[0264] Assume that a sample of individuals is selected from a
larger population. Considering the two markers described above,
each having two alleles, there are four possible haplotypes:
A.sub.1B.sub.1, A.sub.1B.sub.2, A.sub.2B.sub.1 and A.sub.2B.sub.2.
Denote the frequencies of these four haplotypes with the following
notation.
P.sub.11=freq(A.sub.1B.sub.1) (1)
P.sub.12=freq(A.sub.1B.sub.2) (2)
P.sub.21=freq(A.sub.2B.sub.1) (3)
P.sub.22=freq(A.sub.2B.sub.2) (4)
The allele frequencies at the two markers are then the sum of
different haplotype frequencies, it is straightforward to write
down a similar set of equations relating single-marker allele
frequencies to two-marker haplotype frequencies:
p.sub.1=freq(A.sub.1)=P.sub.11+P.sub.12(5)
p.sub.2=freq(A.sub.2)=P.sub.21+P.sub.22 (6)
q.sub.1=freq(B.sub.1)=P.sub.11+P.sub.21 (7)
q.sub.2=freq(B.sub.2)=P.sub.12+P.sub.22 (8)
Note that the four haplotype frequencies and the allele frequencies
at each marker must sum to a frequency of 1.
P.sub.11+P.sub.12+P.sub.21+P.sub.22=1 (9)
p.sub.1+p.sub.2=1 (10)
q.sub.1+q.sub.2=1 (11)
If there is no correlation between the alleles at the two markers,
one would expect that the frequency of the haplotypes would be
approximately the product of the composite alleles. Therefore,
P.sub.11.apprxeq.p.sub.1q.sub.1 (12)
P.sub.12.apprxeq.p.sub.1q.sub.2 (13)
P.sub.21.apprxeq.p.sub.2q.sub.1 (14)
P.sub.22.apprxeq.p.sub.2q.sub.2 (15)
These approximating equations (12)-(15) represent the concept of
linkage equilibrium where there is independent assortment between
the two markers--the alleles at the two markers occur together at
random. These are represented as approximations because linkage
equilibrium and linkage disequilibrium are concepts typically
thought of as properties of a sample of chromosomes; and as such
they are susceptible to stochastic fluctuations due to the sampling
process. Empirically, many pairs of genetic markers will be in
linkage equilibrium, but certainly not all pairs.
[0265] Having established the concept of linkage equilibrium above,
applicants can now describe the concept of linkage disequilibrium
(LD), which is the deviation from linkage equilibrium. Since the
frequency of the A.sub.1B.sub.1 haplotype is approximately the
product of the allele frequencies for A.sub.1 and B.sub.1 under the
assumption of linkage equilibrium as stated mathematically in (12),
a simple measure for the amount of departure from linkage
equilibrium is the difference in these two quantities, D,
D=P.sub.11-p.sub.1q.sub.1 (16)
D=0 indicates perfect linkage equilibrium. Substantial departures
from D=0 indicates LD in the sample of chromosomes examined. Many
properties of D are discussed in Lewontin (1964) including the
maximum and minimum values that D can take. Mathematically, using
basic algebra, it can be shown that D can also be written solely in
terms of haplotypes:
D=P.sub.11P.sub.22-P.sub.12P.sub.21 (17)
If one transforms D by squaring it and subsequently dividing by the
product of the allele frequencies of A.sub.1, A.sub.2, B.sub.1 and
B.sub.2, the resulting quantity, called r.sup.2, is equivalent to
the square of the Pearson's correlation coefficient commonly used
in statistics (e.g., Hoel, 1954).
r 2 = D 2 p 1 p 2 q 1 q 2 ( 18 ) ##EQU00001##
[0266] As with D, values of r.sup.2 close to 0 indicate linkage
equilibrium between the two markers examined in the sample set. As
values of r.sup.2 increase, the two markers are said to be in
linkage disequilibrium. The range of values that r.sup.2 can take
are from 0 to 1. r.sup.2=1 when there is a perfect correlation
between the alleles at the two markers.
[0267] In addition, the quantities discussed above are
sample-specific. And as such, it is necessary to formulate notation
specific to the samples studied. In the approach discussed here,
three types of samples are of primary interest: (i) a sample of
chromosomes from individuals affected by a disease-related
phenotype (cases), (ii) a sample of chromosomes obtained from
individuals not affected by the disease-related phenotype
(controls), and (iii) a standard sample set used for the
construction of haplotypes and calculation pairwise linkage
disequilibrium. For the allele frequencies used in the development
of the method described below, an additional subscript will be
added to denote either the case or control sample sets.
p.sub.1,cs=freq(A.sub.1 in cases) (19)
p.sub.2,cs=freq(A.sub.2 in cases) (20)
q.sub.1,cs=freq(B.sub.1 in cases) (21)
q.sub.2,cs=freq(B.sub.2 in cases) (22)
Similarly,
p.sub.1,ct=freq(A.sub.1 in controls) (23)
p.sub.2,ct=freq(A.sub.2 in controls) (24)
q.sub.1,ct=freq(B.sub.1 in controls) (25)
q.sub.2,ct=freq(B.sub.2 in controls) (26)
[0268] As a well-accepted sample set is necessary for robust
linkage disequilibrium calculations, data obtained from the
International HapMap project (The International HapMap Consortium
2003, 2005; Thorisson et al, 2005; McVean et al, 2005) can be used
for the calculation of pairwise r.sup.2 values. Indeed, the samples
genotyped for the International HapMap Project were selected to be
representative examples from various human sub-populations with
sufficient numbers of chromosomes examined to draw meaningful and
robust conclusions from the patterns of genetic variation observed.
The International HapMap project website (hapmap.org) contains a
description of the project, methods utilized and samples examined.
It is useful to examine empirical data to get a sense of the
patterns present in such data.
[0269] Haplotype frequencies were explicit arguments in equation
(18) above. However, knowing the 2-marker haplotype frequencies
requires that phase to be determined for doubly heterozygous
samples. When phase is unknown in the data examined, various
algorithms can be used to infer phase from the genotype data. This
issue was discussed earlier where the doubly heterozygous
individual with a 2-SNP genotype of A.sub.1A.sub.2B.sub.1B.sub.2
could have one of two different sets of chromosomes:
A.sub.1/B.sub.1/A.sub.2 B.sub.2 or B.sub.2/A.sub.2 One such
algorithm to estimate haplotype frequencies is the
expectation-maximization (EM) algorithm first formalized by
Dempster et al. (1977). This algorithm is often used in genetics to
infer haplotype frequencies from genotype data (e.g. Excoffier and
Slatkin (1995); Tregouet et al. (2004)). It should be noted that
for the two-SNP case explored here, EM algorithms have very little
error provided that the allele frequencies and sample sizes are not
too small. The impact on r.sup.2 values is typically
negligible.
[0270] As correlated genetic markers share information,
interrogation of SNP markers in LD with a disease-associated SNP
marker can also have sufficient power to detect disease association
(Long and Langley (1999)). The relationship between the power to
directly find disease-associated alleles and the power to
indirectly detect disease-association was investigated by Pritchard
and Przeworski (2001). In a straight-forward derivation, it can be
shown that the power to detect disease association indirectly at a
marker locus in linkage disequilibrium with a disease-association
locus is approximately the same as the power to detect
disease-association directly at the disease-association locus if
the sample size is increased by a factor of
1 r 2 ##EQU00002##
(the reciprocal of equation 18) at the marker in comparison with
the disease-association locus.
[0271] Therefore, if one calculated the power to detect
disease-association indirectly with an experiment having N samples,
then equivalent power to directly detect disease-association (at
the actual disease-susceptibility locus) would necessitate an
experiment using approximately r.sup.2 N samples. This elementary
relationship between power, sample size and linkage disequilibrium
can be used to derive an r.sup.2 threshold value useful in
determining whether or not genotyping markers in linkage
disequilibrium with a SNP marker directly associated with disease
status has enough power to indirectly detect
disease-association.
[0272] To commence a derivation of the power to detect
disease-associated markers through an indirect process, define the
effective chromosomal sample size as
n = 4 N cs N ct N cs + N ct ; ( 27 ) ##EQU00003##
where N.sub.cs and N.sub.ct are the numbers of diploid cases and
controls, respectively. This is necessary to handle situations
where the numbers of cases and controls are not equivalent. For
equal case and control sample sizes, N.sub.cs=N.sub.ct=N, the value
of the effective number of chromosomes is simply n=2N--as expected.
Let power be calculated for a significance level a (such that
traditional P-values below .alpha. will be deemed statistically
significant). Define the standard Gaussian distribution function as
.PHI.(.cndot.). Mathematically,
.PHI. ( x ) = 1 2 .pi. .intg. - .infin. x - .theta. 2 2 .theta. (
28 ) ##EQU00004##
Alternatively, the following error function notation (Erf) may also
be used,
.PHI. ( x ) = 1 2 [ 1 + Erf ( x 2 ) ] ( 29 ) ##EQU00005##
[0273] For example, .PHI.(1.644854)=0.95. The value of r.sup.2 may
be derived to yield a pre-specified minimum amount of power to
detect disease association though indirect interrogation. Noting
that the LD SNP marker could be the one that is carrying the
disease-association allele, therefore that this approach
constitutes a lower-bound model where all indirect power results
are expected to be at least as large as those interrogated.
[0274] Denote by .beta. the error rate for not detecting truly
disease-associated markers. Therefore, 1-.beta. is the classical
definition of statistical power. Substituting the
Pritchard-Pzreworski result into the sample size, the power to
detect disease association at a significance level of a is given by
the approximation
1 - .beta. .apprxeq. .PHI. [ q i , cs - q 1 , ct q 1 , cs ( 1 - q 1
, cs ) + q 1 , ct ( 1 - q 1 , ct ) r 2 n - Z 1 - .alpha. / 2 ] ; (
30 ) ##EQU00006##
where Z.sub.u is the inverse of the standard normal cumulative
distribution evaluated at u (u.epsilon.(0,1)).
Z.sub.u=.PHI..sup.-1(u), where
.PHI.(.PHI..sup.-1(u))=.PHI..sup.-1(.PHI.(u))=u. For example,
setting .alpha.=0.05, and therefore 1-.alpha./2=0.975, one obtains
Z.sub.0.975=1.95996. Next, setting power equal to a threshold of a
minimum power of T,
T = .PHI. [ q 1 , cs - q 1 , ct q 1 , cs ( 1 - q 1 , cs ) + q 1 ,
ct ( 1 - q 1 , ct ) r 2 n - Z 1 - .alpha. / 2 ] ( 31 )
##EQU00007##
and solving for r.sup.2, the following threshold r.sup.2 is
obtained:
r T 2 = [ q 1 , cs ( 1 - q 1 , cs ) + q 1 , ct ( 1 - q 1 , ct ) ] n
( q 1 , cs - q 1 , ct ) 2 [ .PHI. - 1 ( T ) + Z 1 - .alpha. / 2 ] 2
Or , ( 32 ) r T 2 = ( Z r + Z 1 - .alpha. / 2 ) 2 n [ q 1 , cs - (
q 1 , cs ) 2 + q 1 , ct - ( q 1 , ct ) 2 ( q 1 , cs - q 1 , ct ) 2
] ( 33 ) ##EQU00008##
[0275] Suppose that r.sup.2 is calculated between an interrogated
SNP and a number of other SNPs with varying levels of LD with the
interrogated SNP. The threshold value r.sub.T.sup.2 is the minimum
value of linkage disequilibrium between the interrogated SNP and
the potential LD SNPs such that the LD SNP still retains a power
greater or equal to T for detecting disease-association. For
example, suppose that SNP rs200 is genotyped in a case-control
disease-association study and it is found to be associated with a
disease phenotype. Further suppose that the minor allele frequency
in 1,000 case chromosomes was found to be 16% in contrast with a
minor allele frequency of 10% in 1,000 control chromosomes. Given
those measurements one could have predicted, prior to the
experiment, that the power to detect disease association at a
significance level of 0.05 was quite high--approximately 98% using
a test of allelic association. Applying equation (32) one can
calculate a minimum value of r.sup.2 to indirectly assess disease
association assuming that the minor allele at SNP rs200 is truly
disease-predisposing for a threshold level of power. If one sets
the threshold level of power to be 80%, then r.sub.T.sup.2=0.489
given the same significance level and chromosome numbers as above.
Hence, any SNP with a pairwise r.sup.2 value with rs200 greater
than 0.489 is expected to have greater than 80% power to detect the
disease association. Further, this is assuming the conservative
model where the LD SNP is disease-associated only through linkage
disequilibrium with the interrogated SNP rs200.
[0276] The contribution or association of particular SNPs and/or
SNP haplotypes with disease phenotypes, such as autoimmune disease,
enables the SNPs of the present invention to be used to develop
superior diagnostic tests capable of identifying individuals who
express a detectable trait, such as autoimmune disease, as the
result of a specific genotype, or individuals whose genotype places
them at an increased or decreased risk of developing a detectable
trait at a subsequent time as compared to individuals who do not
have that genotype. As described herein, diagnostics may be based
on a single SNP or a group of SNPs. Combined detection of a
plurality of SNPs (for example, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12,
13, 14, 15, 16, 17, 18, 19, 20, 24, 25, 30, 32, 48, 50, 64, 96,
100, or any other number in-between, or more, of the SNPs provided
in Table 1 and/or Table 2) typically increases the probability of
an accurate diagnosis. For example, the presence of a single SNP
known to correlate with autoimmune disease might indicate a
probability of 20% that an individual has or is at risk of
developing autoimmune disease, whereas detection of five SNPs, each
of which correlates with autoimmune disease, might indicate a
probability of 80% that an individual has or is at risk of
developing autoimmune disease. To further increase the accuracy of
diagnosis or predisposition screening, analysis of the SNPs of the
present invention can be combined with that of other polymorphisms
or other risk factors of autoimmune disease, such as disease
symptoms, pathological characteristics, family history, diet,
environmental factors or lifestyle factors.
[0277] It will be understood by practitioners skilled in the
treatment or diagnosis of autoimmune disease that the present
invention generally does not intend to provide an absolute
identification of individuals who are at risk (or less at risk) of
developing autoimmune disease, and/or pathologies related to
autoimmune disease, but rather to indicate a certain increased (or
decreased) degree or likelihood of developing the disease based on
statistically significant association results. However, this
information is extremely valuable as it can be used to, for
example, initiate preventive treatments or to allow an individual
carrying one or more significant SNPs or SNP haplotypes to foresee
warning signs such as minor clinical symptoms, or to have regularly
scheduled physical exams to monitor for appearance of a condition
in order to identify and begin treatment of the condition at an
early stage. Particularly with diseases that are extremely
debilitating or fatal if not treated on time, the knowledge of a
potential predisposition, even if this predisposition is not
absolute, would likely contribute in a very significant manner to
treatment efficacy.
[0278] The diagnostic techniques of the present invention may
employ a variety of methodologies to determine whether a test
subject has a SNP or a SNP pattern associated with an increased or
decreased risk of developing a detectable trait or whether the
individual suffers from a detectable trait as a result of a
particular polymorphism/mutation, including, for example, methods
which enable the analysis of individual chromosomes for
haplotyping, family studies, single sperm DNA analysis, or somatic
hybrids. The trait analyzed using the diagnostics of the invention
may be any detectable trait that is commonly observed in
pathologies and disorders related to autoimmune disease.
[0279] Another aspect of the present invention relates to a method
of determining whether an individual is at risk (or less at risk)
of developing one or more traits or whether an individual expresses
one or more traits as a consequence of possessing a particular
trait-causing or trait-influencing allele. These methods generally
involve obtaining a nucleic acid sample from an individual and
assaying the nucleic acid sample to determine which nucleotide(s)
is/are present at one or more SNP positions, wherein the assayed
nucleotide(s) is/are indicative of an increased or decreased risk
of developing the trait or indicative that the individual expresses
the trait as a result of possessing a particular trait-causing or
trait-influencing allele.
[0280] In another embodiment, the SNP detection reagents of the
present invention are used to determine whether an individual has
one or more SNP allele(s) affecting the level (e.g., the
concentration of mRNA or protein in a sample, etc.) or pattern
(e.g., the kinetics of expression, rate of decomposition, stability
profile, Km, Vmax, etc.) of gene expression (collectively, the
"gene response" of a cell or bodily fluid). Such a determination
can be accomplished by screening for mRNA or protein expression
(e.g., by using nucleic acid arrays, RT-PCR, TaqMan assays, or mass
spectrometry), identifying genes having altered expression in an
individual, genotyping SNPs disclosed in Table 1 and/or Table 2
that could affect the expression of the genes having altered
expression (e.g., SNPs that are in and/or around the gene(s) having
altered expression, SNPs in regulatory/control regions, SNPs in
and/or around other genes that are involved in pathways that could
affect the expression of the gene(s) having altered expression, or
all SNPs could be genotyped), and correlating SNP genotypes with
altered gene expression. In this manner, specific SNP alleles at
particular SNP sites can be identified that affect gene
expression.
[0281] Therapeutics, Pharmacogenomics, and Drug Development
[0282] Therapeutic Methods and Compositions
[0283] In certain aspects of the invention, there are provided
methods of assaying (i.e., testing) one or more SNPs provided by
the present invention in an individual's nucleic acids, and
administering a therapeutic or preventive agent to the individual
based on the allele(s) present at the SNP(s) having indicated that
the individual can benefit from the therapeutic or preventive
agent.
[0284] In further aspects of the invention, there are provided
methods of assaying one or more SNPs provided by the present
invention in an individual's nucleic acids, and administering a
diagnostic agent (e.g., an imaging agent), or otherwise carrying
out further diagnostic procedures on the individual, based on the
allele(s) present at the SNP(s) having indicated that the
diagnostic agents or diagnostics procedures are justified in the
individual.
[0285] In yet other aspects of the invention, there is provided a
pharmaceutical pack comprising a therapeutic agent (e.g., a small
molecule drug, antibody, peptide, antisense or RNAi nucleic acid
molecule, etc.) and a set of instructions for administration of the
therapeutic agent to an individual who has been tested for one or
more SNPs provided by the present invention.
[0286] Pharmacogenomics
[0287] The present invention provides methods for assessing the
pharmacogenomics of a subject harboring particular SNP alleles or
haplotypes to a particular therapeutic agent or pharmaceutical
compound, or to a class of such compounds. Pharmacogenomics deals
with the roles which clinically significant hereditary variations
(e.g., SNPs) play in the response to drugs due to altered drug
disposition and/or abnormal action in affected persons. See, e.g.,
Roses, Nature 405, 857-865 (2000); Gould Rothberg, Nature
Biotechnology 19, 209-211 (2001); Eichelbaum, Clin Exp Pharmacol
Physiol 23(10-11):983-985 (1996); and Linder, Clin Chem
43(2):254-266 (1997). The clinical outcomes of these variations can
result in severe toxicity of therapeutic drugs in certain
individuals or therapeutic failure of drugs in certain individuals
as a result of individual variation in metabolism. Thus, the SNP
genotype of an individual can determine the way a therapeutic
compound acts on the body or the way the body metabolizes the
compound. For example, SNPs in drug-metabolizing enzymes can affect
the activity of these enzymes, which in turn can affect both the
intensity and duration of drug action, as well as drug metabolism
and clearance.
[0288] The discovery of SNPs in drug-metabolizing enzymes,
drug-transporters, proteins for pharmaceutical agents, and other
drug targets has explained why some patients do not obtain the
expected drug effects, show an exaggerated drug effect, or
experience serious toxicity from standard drug dosages. SNPs can be
expressed in the phenotype of the extensive metabolizer and in the
phenotype of the poor metabolizer. Accordingly, SNPs may lead to
allelic variants of a protein in which one or more of the protein
functions in one population are different from those in another
population. SNPs and the encoded variant peptides thus provide
targets to ascertain a genetic predisposition that can affect
treatment modality. For example, in a ligand-based treatment, SNPs
may give rise to amino terminal extracellular domains and/or other
ligand-binding regions of a receptor that are more or less active
in ligand binding, thereby affecting subsequent protein activation.
Accordingly, ligand dosage would necessarily be modified to
maximize the therapeutic effect within a given population
containing particular SNP alleles or haplotypes.
[0289] As an alternative to genotyping, specific variant proteins
containing variant amino acid sequences encoded by alternative SNP
alleles could be identified. Thus, pharmacogenomic characterization
of an individual permits the selection of effective compounds and
effective dosages of such compounds for prophylactic or therapeutic
uses based on the individual's SNP genotype, thereby enhancing and
optimizing the effectiveness of the therapy. Furthermore, the
production of recombinant cells and transgenic animals containing
particular SNPs/haplotypes allow effective clinical design and
testing of treatment compounds and dosage regimens. For example,
transgenic animals can be produced that differ only in specific SNP
alleles in a gene that is orthologous to a human disease
susceptibility gene.
[0290] Pharmacogenomic uses of the SNPs of the present invention
provide several significant advantages for patient care,
particularly in predicting an individual's predisposition to
autoimmune disease (e.g., RA) and in predicting an individual's
responsiveness to a drug (particularly for treating or preventing
autoimmune disease). Pharmacogenomic characterization of an
individual, based on an individual's SNP genotype, can identify
those individuals unlikely to respond to treatment with a
particular medication and thereby allows physicians to avoid
prescribing the ineffective medication to those individuals. On the
other hand, SNP genotyping of an individual may enable physicians
to select the appropriate medication and dosage regimen that will
be most effective based on an individual's SNP genotype. This
information increases a physician's confidence in prescribing
medications and motivates patients to comply with their drug
regimens. Furthermore, pharmacogenomics may identify patients
predisposed to toxicity and adverse reactions to particular drugs
or drug dosages. Adverse drug reactions lead to more than 100,000
avoidable deaths per year in the United States alone and therefore
represent a significant cause of hospitalization and death, as well
as a significant economic burden on the healthcare system (Pfost et
al., Trends in Biotechnology, August 2000.). Thus, pharmacogenomics
based on the SNPs disclosed herein has the potential to both save
lives and reduce healthcare costs substantially.
[0291] Pharmacogenomics in general is discussed further in Rose et
al., "Pharmacogenetic analysis of clinically relevant genetic
polymorphisms," Methods Mol Med 85:225-37 (2003). Pharmacogenomics
as it relates to Alzheimer's disease and other neurodegenerative
disorders is discussed in Cacabelos, "Pharmacogenomics for the
treatment of dementia," Ann Med 34(5):357-79 (2002); Maimone et
al., "Pharmacogenomics of neurodegenerative diseases," Eur J
Pharmacol 413(1):11-29 (February 2001); and Poirier,
"Apolipoprotein E: a pharmacogenetic target for the treatment of
Alzheimer's disease," Mol Diagn 4(4):335-41 (December 1999).
Pharmacogenomics as it relates to cardiovascular disorders is
discussed in Siest et al., "Pharmacogenomics of drugs affecting the
cardiovascular system," Clin Chem Lab Med 41(4):590-9 (April 2003);
Mukherjee et al., "Pharmacogenomics in cardiovascular diseases,"
Prog Cardiovasc Dis 44(6):479-98 (May-June 2002); and Mooser et
al., "Cardiovascular pharmacogenetics in the SNP era," J Thromb
Haemost 1(7):1398-402 (July 2003). Pharmacogenomics as it relates
to cancer is discussed in McLeod et al., "Cancer pharmacogenomics:
SNPs, chips, and the individual patient," Cancer Invest
21(4):630-40 (2003); and Watters et al., "Cancer pharmacogenomics:
current and future applications," Biochim Biophys Acta
1603(2):99-111 (March 2003).
[0292] Clinical Trials
[0293] In certain aspects of the invention, there are provided
methods of using the SNPs disclosed herein to identify or stratify
patient populations for clinical trials of a therapeutic,
preventive, or diagnostic agent.
[0294] For instance, an aspect of the present invention includes
selecting individuals for clinical trials based on their SNP
genotype. For example, individuals with SNP genotypes that indicate
that they are likely to positively respond to a drug can be
included in the trials, whereas those individuals whose SNP
genotypes indicate that they are less likely to or would not
respond to the drug, or who are at risk for suffering toxic effects
or other adverse reactions, can be excluded from the clinical
trials. This not only can improve the safety of clinical trials,
but also can enhance the chances that the trial will demonstrate
statistically significant efficacy.
[0295] In certain exemplary embodiments, SNPs of the invention can
be used to select individuals who are unlikely to respond
positively to a particular therapeutic agent (or class of
therapeutic agents) based on their SNP genotype(s) to participate
in a clinical trial of another type of drug that may benefit them.
Thus, in certain embodiments, the SNPs of the invention can be used
to identify patient populations who do not adequately respond to
current treatments and are therefore in need of new therapies. This
not only benefits the patients themselves, but also benefits
organizations such as pharmaceutical companies by enabling the
identification of populations that represent markets for new drugs,
and enables the efficacy of these new drugs to be tested during
clinical trials directly in individuals within these markets.
[0296] The SNP-containing nucleic acid molecules of the present
invention are also useful for monitoring the effectiveness of
modulating compounds on the expression or activity of a variant
gene, or encoded product, particularly in a treatment regimen or in
clinical trials. Thus, the gene expression pattern can serve as an
indicator for the continuing effectiveness of treatment with the
compound, particularly with compounds to which a patient can
develop resistance, as well as an indicator for toxicities. The
gene expression pattern can also serve as a marker indicative of a
physiological response of the affected cells to the compound.
Accordingly, such monitoring would allow either increased
administration of the compound or the administration of alternative
compounds to which the patient has not become resistant.
[0297] Furthermore, the SNPs of the present invention may have
utility in determining why certain previously developed drugs
performed poorly in clinical trials and may help identify a subset
of the population that would benefit from a drug that had
previously performed poorly in clinical trials, thereby "rescuing"
previously developed drugs, and enabling the drug to be made
available to a particular autoimmune disease patient population
that can benefit from it.
[0298] Identification, Screening, and Use of Therapeutic Agents
[0299] The SNPs of the present invention also can be used to
identify novel therapeutic targets for autoimmune disease. For
example, genes containing the disease-associated variants ("variant
genes") or their products, as well as genes or their products that
are directly or indirectly regulated by or interacting with these
variant genes or their products, can be targeted for the
development of therapeutics that, for example, treat the disease or
prevent or delay disease onset. The therapeutics may be composed
of, for example, small molecules, proteins, protein fragments or
peptides, antibodies, nucleic acids, or their derivatives or
mimetics which modulate the functions or levels of the target genes
or gene products.
[0300] The invention further provides methods for identifying a
compound or agent that can be used to treat autoimmune disease. The
SNPs disclosed herein are useful as targets for the identification
and/or development of therapeutic agents. A method for identifying
a therapeutic agent or compound typically includes assaying the
ability of the agent or compound to modulate the activity and/or
expression of a SNP-containing nucleic acid or the encoded product
and thus identifying an agent or a compound that can be used to
treat a disorder characterized by undesired activity or expression
of the SNP-containing nucleic acid or the encoded product. The
assays can be performed in cell-based and cell-free systems.
Cell-based assays can include cells naturally expressing the
nucleic acid molecules of interest or recombinant cells genetically
engineered to express certain nucleic acid molecules.
[0301] Variant gene expression in a autoimmune disease patient can
include, for example, either expression of a SNP-containing nucleic
acid sequence (for instance, a gene that contains a SNP can be
transcribed into an mRNA transcript molecule containing the SNP,
which can in turn be translated into a variant protein) or altered
expression of a normal/wild-type nucleic acid sequence due to one
or more SNPs (for instance, a regulatory/control region can contain
a SNP that affects the level or pattern of expression of a normal
transcript).
[0302] Assays for variant gene expression can involve direct assays
of nucleic acid levels (e.g., mRNA levels), expressed protein
levels, or of collateral compounds involved in a signal pathway.
Further, the expression of genes that are up- or down-regulated in
response to the signal pathway can also be assayed. In this
embodiment, the regulatory regions of these genes can be operably
linked to a reporter gene such as luciferase.
[0303] Modulators of variant gene expression can be identified in a
method wherein, for example, a cell is contacted with a candidate
compound/agent and the expression of mRNA determined. The level of
expression of mRNA in the presence of the candidate compound is
compared to the level of expression of mRNA in the absence of the
candidate compound. The candidate compound can then be identified
as a modulator of variant gene expression based on this comparison
and be used to treat a disorder such as autoimmune disease that is
characterized by variant gene expression (e.g., either expression
of a SNP-containing nucleic acid or altered expression of a
normal/wild-type nucleic acid molecule due to one or more SNPs that
affect expression of the nucleic acid molecule) due to one or more
SNPs of the present invention. When expression of mRNA is
statistically significantly greater in the presence of the
candidate compound than in its absence, the candidate compound is
identified as a stimulator of nucleic acid expression. When nucleic
acid expression is statistically significantly less in the presence
of the candidate compound than in its absence, the candidate
compound is identified as an inhibitor of nucleic acid
expression.
[0304] The invention further provides methods of treatment, with
the SNP or associated nucleic acid domain (e.g., catalytic domain,
ligand/substrate-binding domain, regulatory/control region, etc.)
or gene, or the encoded mRNA transcript, as a target, using a
compound identified through drug screening as a gene modulator to
modulate variant nucleic acid expression. Modulation can include
either up-regulation (i.e., activation or agonization) or
down-regulation (i.e., suppression or antagonization) of nucleic
acid expression.
[0305] Expression of mRNA transcripts and encoded proteins, either
wild type or variant, may be altered in individuals with a
particular SNP allele in a regulatory/control element, such as a
promoter or transcription factor binding domain, that regulates
expression. In this situation, methods of treatment and compounds
can be identified, as discussed herein, that regulate or overcome
the variant regulatory/control element, thereby generating normal,
or healthy, expression levels of either the wild type or variant
protein.
[0306] Pharmaceutical Compositions and Administration Thereof
[0307] Any of the autoimmune disease-associated proteins, and
encoding nucleic acid molecules, disclosed herein can be used as
therapeutic targets (or directly used themselves as therapeutic
compounds) for treating or preventing autoimmune disease or related
pathologies, and the present disclosure enables therapeutic
compounds (e.g., small molecules, antibodies, therapeutic proteins,
RNAi and antisense molecules, etc.) to be developed that target (or
are comprised of) any of these therapeutic targets.
[0308] In general, a therapeutic compound will be administered in a
therapeutically effective amount by any of the accepted modes of
administration for agents that serve similar utilities. The actual
amount of the therapeutic compound of this invention, i.e., the
active ingredient, will depend upon numerous factors such as the
severity of the disease to be treated, the age and relative health
of the subject, the potency of the compound used, the route and
form of administration, and other factors.
[0309] Therapeutically effective amounts of therapeutic compounds
may range from, for example, approximately 0.01-50 mg per kilogram
body weight of the recipient per day; preferably about 0.1-20
mg/kg/day. Thus, as an example, for administration to a 70-kg
person, the dosage range would most preferably be about 7 mg to 1.4
g per day.
[0310] In general, therapeutic compounds will be administered as
pharmaceutical compositions by any one of the following routes:
oral, systemic (e.g., transdermal, intranasal, or by suppository),
or parenteral (e.g., intramuscular, intravenous, or subcutaneous)
administration. The preferred manner of administration is oral or
parenteral using a convenient daily dosage regimen, which can be
adjusted according to the degree of affliction. Oral compositions
can take the form of tablets, pills, capsules, semisolids, powders,
sustained release formulations, solutions, suspensions, elixirs,
aerosols, or any other appropriate compositions.
[0311] The choice of formulation depends on various factors such as
the mode of drug administration (e.g., for oral administration,
formulations in the form of tablets, pills, or capsules are
preferred) and the bioavailability of the drug substance. Recently,
pharmaceutical formulations have been developed especially for
drugs that show poor bioavailability based upon the principle that
bioavailability can be increased by increasing the surface area,
i.e., decreasing particle size. For example, U.S. Pat. No.
4,107,288 describes a pharmaceutical formulation having particles
in the size range from 10 to 1,000 nm in which the active material
is supported on a cross-linked matrix of macromolecules. U.S. Pat.
No. 5,145,684 describes the production of a pharmaceutical
formulation in which the drug substance is pulverized to
nanoparticles (average particle size of 400 nm) in the presence of
a surface modifier and then dispersed in a liquid medium to give a
pharmaceutical formulation that exhibits remarkably high
bioavailability.
[0312] Pharmaceutical compositions are comprised of, in general, a
therapeutic compound in combination with at least one
pharmaceutically acceptable excipient. Acceptable excipients are
non-toxic, aid administration, and do not adversely affect the
therapeutic benefit of the therapeutic compound. Such excipients
may be any solid, liquid, semi-solid or, in the case of an aerosol
composition, gaseous excipient that is generally available to one
skilled in the art.
[0313] Solid pharmaceutical excipients include starch, cellulose,
talc, glucose, lactose, sucrose, gelatin, malt, rice, flour, chalk,
silica gel, magnesium stearate, sodium stearate, glycerol
monostearate, sodium chloride, dried skim milk and the like. Liquid
and semisolid excipients may be selected from glycerol, propylene
glycol, water, ethanol and various oils, including those of
petroleum, animal, vegetable or synthetic origin, e.g., peanut oil,
soybean oil, mineral oil, sesame oil, etc. Preferred liquid
carriers, particularly for injectable solutions, include water,
saline, aqueous dextrose, and glycols.
[0314] Compressed gases may be used to disperse a compound of this
invention in aerosol form. Inert gases suitable for this purpose
are nitrogen, carbon dioxide, etc.
[0315] Other suitable pharmaceutical excipients and their
formulations are described in Remington's Pharmaceutical Sciences
18.sup.th ed., E.W. Martin, ed., Mack Publishing Company
(1990).
[0316] The amount of the therapeutic compound in a formulation can
vary within the full range employed by those skilled in the art.
Typically, the formulation will contain, on a weight percent (wt %)
basis, from about 0.01-99.99 wt % of the therapeutic compound based
on the total formulation, with the balance being one or more
suitable pharmaceutical excipients. Preferably, the compound is
present at a level of about 1-80% wt.
[0317] Therapeutic compounds can be administered alone or in
combination with other therapeutic compounds or in combination with
one or more other active ingredient(s). For example, an inhibitor
or stimulator of a autoimmune disease-associated protein can be
administered in combination with another agent that inhibits or
stimulates the activity of the same or a different autoimmune
disease-associated protein to thereby counteract the effects of
autoimmune disease.
[0318] For further information regarding pharmacology, see Current
Protocols in Pharmacology, John Wiley & Sons, Inc., N.Y.
[0319] Nucleic Acid-Based Therapeutic Agents
[0320] The SNP-containing nucleic acid molecules disclosed herein,
and their complementary nucleic acid molecules, may be used as
antisense constructs to control gene expression in cells, tissues,
and organisms. Antisense technology is well established in the art
and extensively reviewed in Antisense Drug Technology: Principles,
Strategies, and Applications, Crooke, ed., Marcel Dekker, Inc.,
N.Y. (2001). An antisense nucleic acid molecule is generally
designed to be complementary to a region of mRNA expressed by a
gene so that the antisense molecule hybridizes to the mRNA and
thereby blocks translation of mRNA into protein. Various classes of
antisense oligonucleotides are used in the art, two of which are
cleavers and blockers. Cleavers, by binding to target RNAs,
activate intracellular nucleases (e.g., RNaseH or RNase L) that
cleave the target RNA. Blockers, which also bind to target RNAs,
inhibit protein translation through steric hindrance of ribosomes.
Exemplary blockers include peptide nucleic acids, morpholinos,
locked nucleic acids, and methylphosphonates. See, e.g., Thompson,
Drug Discovery Today 7(17): 912-917 (2002). Antisense
oligonucleotides are directly useful as therapeutic agents, and are
also useful for determining and validating gene function (e.g., in
gene knock-out or knock-down experiments).
[0321] Antisense technology is further reviewed in: Layery et al.,
"Antisense and RNAi: powerful tools in drug target discovery and
validation," Curr Opin Drug Discov Devel 6(4):561-9 (July 2003);
Stephens et al., "Antisense oligonucleotide therapy in cancer,"
Curr Opin Mol Ther 5(2):118-22 (April 2003); Kurreck, "Antisense
technologies. Improvement through novel chemical modifications,"
Eur J Biochem 270(8):1628-44 (April 2003); Dias et al., "Antisense
oligonucleotides: basic concepts and mechanisms," Mol Cancer Ther
1(5):347-55 (March 2002); Chen, "Clinical development of antisense
oligonucleotides as anti-cancer therapeutics," Methods Mol Med
75:621-36 (2003); Wang et al., "Antisense anticancer
oligonucleotide therapeutics," Curr Cancer Drug Targets 1(3):177-96
(November 2001); and Bennett, "Efficiency of antisense
oligonucleotide drug discovery," Antisense Nucleic Acid Drug Dev
12(3):215-24 (June 2002).
[0322] The SNPs of the present invention are particularly useful
for designing antisense reagents that are specific for particular
nucleic acid variants. Based on the SNP information disclosed
herein, antisense oligonucleotides can be produced that
specifically target mRNA molecules that contain one or more
particular SNP nucleotides. In this manner, expression of mRNA
molecules that contain one or more undesired polymorphisms (e.g.,
SNP nucleotides that lead to a defective protein such as an amino
acid substitution in a catalytic domain) can be inhibited or
completely blocked. Thus, antisense oligonucleotides can be used to
specifically bind a particular polymorphic form (e.g., a SNP allele
that encodes a defective protein), thereby inhibiting translation
of this form, but which do not bind an alternative polymorphic form
(e.g., an alternative SNP nucleotide that encodes a protein having
normal function).
[0323] Antisense molecules can be used to inactivate mRNA in order
to inhibit gene expression and production of defective proteins.
Accordingly, these molecules can be used to treat a disorder, such
as autoimmune disease, characterized by abnormal or undesired gene
expression or expression of certain defective proteins. This
technique can involve cleavage by means of ribozymes containing
nucleotide sequences complementary to one or more regions in the
mRNA that attenuate the ability of the mRNA to be translated.
Possible mRNA regions include, for example, protein-coding regions
and particularly protein-coding regions corresponding to catalytic
activities, substrate/ligand binding, or other functional
activities of a protein.
[0324] The SNPs of the present invention are also useful for
designing RNA interference reagents that specifically target
nucleic acid molecules having particular SNP variants. RNA
interference (RNAi), also referred to as gene silencing, is based
on using double-stranded RNA (dsRNA) molecules to turn genes off.
When introduced into a cell, dsRNAs are processed by the cell into
short fragments (generally about 21, 22, or 23 nucleotides in
length) known as small interfering RNAs (siRNAs) which the cell
uses in a sequence-specific manner to recognize and destroy
complementary RNAs. Thompson, Drug Discovery Today 7(17): 912-917
(2002). Accordingly, an aspect of the present invention
specifically contemplates isolated nucleic acid molecules that are
about 18-26 nucleotides in length, preferably 19-25 nucleotides in
length, and more preferably 20, 21, 22, or 23 nucleotides in
length, and the use of these nucleic acid molecules for RNAi.
Because RNAi molecules, including siRNAs, act in a
sequence-specific manner, the SNPs of the present invention can be
used to design RNAi reagents that recognize and destroy nucleic
acid molecules having specific SNP alleles/nucleotides (such as
deleterious alleles that lead to the production of defective
proteins), while not affecting nucleic acid molecules having
alternative SNP alleles (such as alleles that encode proteins
having normal function). As with antisense reagents, RNAi reagents
may be directly useful as therapeutic agents (e.g., for turning off
defective, disease-causing genes), and are also useful for
characterizing and validating gene function (e.g., in gene
knock-out or knock-down experiments).
[0325] The following references provide a further review of RNAi:
Reynolds et al., "Rational siRNA design for RNA interference," Nat
Biotechnol 22(3):326-30 (March 2004); Epub Feb. 1, 2004; Chi et
al., "Genomewide view of gene silencing by small interfering RNAs,"
PNAS 100(11):6343-6346 (2003); Vickers et al., "Efficient Reduction
of Target RNAs by Small Interfering RNA and RNase H-dependent
Antisense Agents," J Biol Chem 278:7108-7118 (2003); Agami, "RNAi
and related mechanisms and their potential use for therapy," Curr
Opin Chem Biol 6(6):829-34 (December 2002); Layery et al.,
"Antisense and RNAi: powerful tools in drug target discovery and
validation," Curr Opin Drug Discov Devel 6(4):561-9 (July 2003);
Shi, "Mammalian RNAi for the masses," Trends Genet. 19(1):9-12
(January 2003); Shuey et al., "RNAi: gene-silencing in therapeutic
intervention," Drug Discovery Today 7(20):1040-1046 (October 2002);
McManus et al., Nat Rev Genet. 3(10):737-47 (October 2002); Xia et
al., Nat Biotechnol 20(10):1006-10 (October 2002); Plasterk et al.,
Curr Opin Genet Dev 10(5):562-7 (October 2000); Bosher et al., Nat
Cell Biol 2(2):E31-6 (February 2000); and Hunter, Curr Biol 17;
9(12):R440-2 (June 1999).
[0326] Other Therapeutic Aspects
[0327] SNPs have many important uses in drug discovery, screening,
and development, and thus the SNPs of the present invention are
useful for improving many different aspects of the drug development
process.
[0328] For example, a high probability exists that, for any
gene/protein selected as a potential drug target, variants of that
gene/protein will exist in a patient population. Thus, determining
the impact of gene/protein variants on the selection and delivery
of a therapeutic agent should be an integral aspect of the drug
discovery and development process. Jazwinska, A Trends Guide to
Genetic Variation and Genomic Medicine S30-S36 (March 2002).
[0329] Knowledge of variants (e.g., SNPs and any corresponding
amino acid polymorphisms) of a particular therapeutic target (e.g.,
a gene, mRNA transcript, or protein) enables parallel screening of
the variants in order to identify therapeutic candidates (e.g.,
small molecule compounds, antibodies, antisense or RNAi nucleic
acid compounds, etc.) that demonstrate efficacy across variants.
Rothberg, Nat Biotechnol 19(3):209-11 (March 2001). Such
therapeutic candidates would be expected to show equal efficacy
across a larger segment of the patient population, thereby leading
to a larger potential market for the therapeutic candidate.
[0330] Furthermore, identifying variants of a potential therapeutic
target enables the most common form of the target to be used for
selection of therapeutic candidates, thereby helping to ensure that
the experimental activity that is observed for the selected
candidates reflects the real activity expected in the largest
proportion of a patient population. Jazwinska, A Trends Guide to
Genetic Variation and Genomic Medicine S30-S36 (March 2002).
[0331] Additionally, screening therapeutic candidates against all
known variants of a target can enable the early identification of
potential toxicities and adverse reactions relating to particular
variants. For example, variability in drug absorption,
distribution, metabolism and excretion (ADME) caused by, for
example, SNPs in therapeutic targets or drug metabolizing genes,
can be identified, and this information can be utilized during the
drug development process to minimize variability in drug
disposition and develop therapeutic agents that are safer across a
wider range of a patient population. The SNPs of the present
invention, including the variant proteins and encoding polymorphic
nucleic acid molecules provided in Tables 1 and 2, are useful in
conjunction with a variety of toxicology methods established in the
art, such as those set forth in Current Protocols in Toxicology,
John Wiley & Sons, Inc., N.Y.
[0332] Furthermore, therapeutic agents that target any art-known
proteins (or nucleic acid molecules, either RNA or DNA) may
cross-react with the variant proteins (or polymorphic nucleic acid
molecules) disclosed in Table 1, thereby significantly affecting
the pharmacokinetic properties of the drug. Consequently, the
protein variants and the SNP-containing nucleic acid molecules
disclosed in Tables 1 and 2 are useful in developing, screening,
and evaluating therapeutic agents that target corresponding
art-known protein forms (or nucleic acid molecules). Additionally,
as discussed above, knowledge of all polymorphic forms of a
particular drug target enables the design of therapeutic agents
that are effective against most or all such polymorphic forms of
the drug target.
[0333] A subject suffering from a pathological condition ascribed
to a SNP, such as autoimmune disease, may be treated so as to
correct the genetic defect. See Kren et al., Proc Natl Acad Sci USA
96:10349-10354 (1999). Such a subject can be identified by any
method that can detect the polymorphism in a biological sample
drawn from the subject. Such a genetic defect may be permanently
corrected by administering to such a subject a nucleic acid
fragment incorporating a repair sequence that supplies the
normal/wild-type nucleotide at the position of the SNP. This
site-specific repair sequence can encompass an RNA/DNA
oligonucleotide that operates to promote endogenous repair of a
subject's genomic DNA. The site-specific repair sequence is
administered in an appropriate vehicle, such as a complex with
polyethylenimine, encapsulated in anionic liposomes, a viral vector
such as an adenovirus, or other pharmaceutical composition that
promotes intracellular uptake of the administered nucleic acid. A
genetic defect leading to an inborn pathology may then be overcome,
as the chimeric oligonucleotides induce incorporation of the normal
sequence into the subject's genome. Upon incorporation, the normal
gene product is expressed, and the replacement is propagated,
thereby engendering a permanent repair and therapeutic enhancement
of the clinical condition of the subject.
[0334] In cases in which a cSNP results in a variant protein that
is ascribed to be the cause of, or a contributing factor to, a
pathological condition, a method of treating such a condition can
include administering to a subject experiencing the pathology the
wild-type/normal cognate of the variant protein. Once administered
in an effective dosing regimen, the wild-type cognate provides
complementation or remediation of the pathological condition.
[0335] Human Identification Applications
[0336] In addition to their predictive, diagnostic, prognostic,
therapeutic, and preventive uses in autoimmune disease and related
pathologies, the SNPs provided by the present invention are also
useful as human identification markers for such applications as
forensics, paternity testing, and biometrics. See, e.g., Gill, "An
assessment of the utility of single nucleotide polymorphisms (SNPs)
for forensic purposes," Int J Legal Med 114(4-5):204-10 (2001).
Genetic variations in the nucleic acid sequences between
individuals can be used as genetic markers to identify individuals
and to associate a biological sample with an individual.
Determination of which nucleotides occupy a set of SNP positions in
an individual identifies a set of SNP markers that distinguishes
the individual. The more SNP positions that are analyzed, the lower
the probability that the set of SNPs in one individual is the same
as that in an unrelated individual. Preferably, if multiple sites
are analyzed, the sites are unlinked (i.e., inherited
independently). Thus, preferred sets of SNPs can be selected from
among the SNPs disclosed herein, which may include SNPs on
different chromosomes, SNPs on different chromosome arms, and/or
SNPs that are dispersed over substantial distances along the same
chromosome arm.
[0337] Furthermore, among the SNPs disclosed herein, preferred SNPs
for use in certain forensic/human identification applications
include SNPs located at degenerate codon positions (i.e., the third
position in certain codons which can be one of two or more
alternative nucleotides and still encode the same amino acid),
since these SNPs do not affect the encoded protein. SNPs that do
not affect the encoded protein are expected to be under less
selective pressure and are therefore expected to be more
polymorphic in a population, which is typically an advantage for
forensic/human identification applications. However, for certain
forensics/human identification applications, such as predicting
phenotypic characteristics (e.g., inferring ancestry or inferring
one or more physical characteristics of an individual) from a DNA
sample, it may be desirable to utilize SNPs that affect the encoded
protein.
[0338] For many of the SNPs disclosed in Tables 1 and 2 (which are
identified as "Applera" SNP source), Tables 1 and 2 provide SNP
allele frequencies obtained by re-sequencing the DNA of chromosomes
from 39 individuals (Tables 1 and 2 also provide allele frequency
information for "Celera" source SNPs and, where available, public
SNPs from dbEST, HGBASE, and/or HGMD). The allele frequencies
provided in Tables 1 and 2 enable these SNPs to be readily used for
human identification applications. Although any SNP disclosed in
Table 1 and/or Table 2 could be used for human identification, the
closer that the frequency of the minor allele at a particular SNP
site is to 50%, the greater the ability of that SNP to discriminate
between different individuals in a population since it becomes
increasingly likely that two randomly selected individuals would
have different alleles at that SNP site. Using the SNP allele
frequencies provided in Tables 1 and 2, one of ordinary skill in
the art could readily select a subset of SNPs for which the
frequency of the minor allele is, for example, at least 1%, 2%, 5%,
10%, 20%, 25%, 30%, 40%, 45%, or 50%, or any other frequency
in-between. Thus, since Tables 1 and 2 provide allele frequencies
based on the re-sequencing of the chromosomes from 39 individuals,
a subset of SNPs could readily be selected for human identification
in which the total allele count of the minor allele at a particular
SNP site is, for example, at least 1, 2, 4, 8, 10, 16, 20, 24, 30,
32, 36, 38, 39, 40, or any other number in-between.
[0339] Furthermore, Tables 1 and 2 also provide population group
(interchangeably referred to herein as ethnic or racial groups)
information coupled with the extensive allele frequency
information. For example, the group of 39 individuals whose DNA was
re-sequenced was made-up of 20 Caucasians and 19 African-Americans.
This population group information enables further refinement of SNP
selection for human identification. For example, preferred SNPs for
human identification can be selected from Tables 1 and 2 that have
similar allele frequencies in both the Caucasian and
African-American populations; thus, for example, SNPs can be
selected that have equally high discriminatory power in both
populations. Alternatively, SNPs can be selected for which there is
a statistically significant difference in allele frequencies
between the Caucasian and African-American populations (as an
extreme example, a particular allele may be observed only in either
the Caucasian or the African-American population group but not
observed in the other population group); such SNPs are useful, for
example, for predicting the race/ethnicity of an unknown
perpetrator from a biological sample such as a hair or blood stain
recovered at a crime scene. For a discussion of using SNPs to
predict ancestry from a DNA sample, including statistical methods,
see Frudakis et al., "A Classifier for the SNP-Based Inference of
Ancestry," Journal of Forensic Sciences 48(4):771-782 (2003).
[0340] SNPs have numerous advantages over other types of
polymorphic markers, such as short tandem repeats (STRs). For
example, SNPs can be easily scored and are amenable to automation,
making SNPs the markers of choice for large-scale forensic
databases. SNPs are found in much greater abundance throughout the
genome than repeat polymorphisms. Population frequencies of two
polymorphic forms can usually be determined with greater accuracy
than those of multiple polymorphic forms at multi-allelic loci.
SNPs are mutationally more stable than repeat polymorphisms. SNPs
are not susceptible to artifacts such as stutter bands that can
hinder analysis. Stutter bands are frequently encountered when
analyzing repeat polymorphisms, and are particularly troublesome
when analyzing samples such as crime scene samples that may contain
mixtures of DNA from multiple sources. Another significant
advantage of SNP markers over STR markers is the much shorter
length of nucleic acid needed to score a SNP. For example, STR
markers are generally several hundred base pairs in length. A SNP,
on the other hand, comprises a single nucleotide, and generally a
short conserved region on either side of the SNP position for
primer and/or probe binding. This makes SNPs more amenable to
typing in highly degraded or aged biological samples that are
frequently encountered in forensic casework in which DNA may be
fragmented into short pieces.
[0341] SNPs also are not subject to microvariant and "off-ladder"
alleles frequently encountered when analyzing STR loci.
Microvariants are deletions or insertions within a repeat unit that
change the size of the amplified DNA product so that the amplified
product does not migrate at the same rate as reference alleles with
normal sized repeat units. When separated by size, such as by
electrophoresis on a polyacrylamide gel, microvariants do not align
with a reference allelic ladder of standard sized repeat units, but
rather migrate between the reference alleles. The reference allelic
ladder is used for precise sizing of alleles for allele
classification; therefore alleles that do not align with the
reference allelic ladder lead to substantial analysis problems.
Furthermore, when analyzing multi-allelic repeat polymorphisms,
occasionally an allele is found that consists of more or less
repeat units than has been previously seen in the population, or
more or less repeat alleles than are included in a reference
allelic ladder. These alleles will migrate outside the size range
of known alleles in a reference allelic ladder, and therefore are
referred to as "off-ladder" alleles. In extreme cases, the allele
may contain so few or so many repeats that it migrates well out of
the range of the reference allelic ladder. In this situation, the
allele may not even be observed, or, with multiplex analysis, it
may migrate within or close to the size range for another locus,
further confounding analysis.
[0342] SNP analysis avoids the problems of microvariants and
off-ladder alleles encountered in STR analysis. Importantly,
microvariants and off-ladder alleles may provide significant
problems, and may be completely missed, when using analysis methods
such as oligonucleotide hybridization arrays, which utilize
oligonucleotide probes specific for certain known alleles.
Furthermore, off-ladder alleles and microvariants encountered with
STR analysis, even when correctly typed, may lead to improper
statistical analysis, since their frequencies in the population are
generally unknown or poorly characterized, and therefore the
statistical significance of a matching genotype may be
questionable. All these advantages of SNP analysis are considerable
in light of the consequences of most DNA identification cases,
which may lead to life imprisonment for an individual, or
re-association of remains to the family of a deceased
individual.
[0343] DNA can be isolated from biological samples such as blood,
bone, hair, saliva, or semen, and compared with the DNA from a
reference source at particular SNP positions. Multiple SNP markers
can be assayed simultaneously in order to increase the power of
discrimination and the statistical significance of a matching
genotype. For example, oligonucleotide arrays can be used to
genotype a large number of SNPs simultaneously. The SNPs provided
by the present invention can be assayed in combination with other
polymorphic genetic markers, such as other SNPs known in the art or
STRs, in order to identify an individual or to associate an
individual with a particular biological sample.
[0344] Furthermore, the SNPs provided by the present invention can
be genotyped for inclusion in a database of DNA genotypes, for
example, a criminal DNA databank such as the FBI's Combined DNA
Index System (CODIS) database. A genotype obtained from a
biological sample of unknown source can then be queried against the
database to find a matching genotype, with the SNPs of the present
invention providing nucleotide positions at which to compare the
known and unknown DNA sequences for identity. Accordingly, the
present invention provides a database comprising novel SNPs or SNP
alleles of the present invention (e.g., the database can comprise
information indicating which alleles are possessed by individual
members of a population at one or more novel SNP sites of the
present invention), such as for use in forensics, biometrics, or
other human identification applications. Such a database typically
comprises a computer-based system in which the SNPs or SNP alleles
of the present invention are recorded on a computer readable
medium.
[0345] The SNPs of the present invention can also be assayed for
use in paternity testing. The object of paternity testing is
usually to determine whether a male is the father of a child. In
most cases, the mother of the child is known and thus, the mother's
contribution to the child's genotype can be traced. Paternity
testing investigates whether the part of the child's genotype not
attributable to the mother is consistent with that of the putative
father. Paternity testing can be performed by analyzing sets of
polymorphisms in the putative father and the child, with the SNPs
of the present invention providing nucleotide positions at which to
compare the putative father's and child's DNA sequences for
identity. If the set of polymorphisms in the child attributable to
the father does not match the set of polymorphisms of the putative
father, it can be concluded, barring experimental error, that the
putative father is not the father of the child. If the set of
polymorphisms in the child attributable to the father match the set
of polymorphisms of the putative father, a statistical calculation
can be performed to determine the probability of coincidental
match, and a conclusion drawn as to the likelihood that the
putative father is the true biological father of the child.
[0346] In addition to paternity testing, SNPs are also useful for
other types of kinship testing, such as for verifying familial
relationships for immigration purposes, or for cases in which an
individual alleges to be related to a deceased individual in order
to claim an inheritance from the deceased individual, etc. For
further information regarding the utility of SNPs for paternity
testing and other types of kinship testing, including methods for
statistical analysis, see Krawczak, "Informativity assessment for
biallelic single nucleotide polymorphisms," Electrophoresis
20(8):1676-81 (June 1999).
[0347] The use of the SNPs of the present invention for human
identification further extends to various authentication systems,
commonly referred to as biometric systems, which typically convert
physical characteristics of humans (or other organisms) into
digital data. Biometric systems include various technological
devices that measure such unique anatomical or physiological
characteristics as finger, thumb, or palm prints; hand geometry;
vein patterning on the back of the hand; blood vessel patterning of
the retina and color and texture of the iris; facial
characteristics; voice patterns; signature and typing dynamics; and
DNA. Such physiological measurements can be used to verify identity
and, for example, restrict or allow access based on the
identification. Examples of applications for biometrics include
physical area security, computer and network security, aircraft
passenger check-in and boarding, financial transactions, medical
records access, government benefit distribution, voting, law
enforcement, passports, visas and immigration, prisons, various
military applications, and for restricting access to expensive or
dangerous items, such as automobiles or guns. See, for example,
O'Connor, Stanford Technology Law Review, and U.S. Pat. No.
6,119,096.
[0348] Groups of SNPs, particularly the SNPs provided by the
present invention, can be typed to uniquely identify an individual
for biometric applications such as those described above. Such SNP
typing can readily be accomplished using, for example, DNA
chips/arrays. Preferably, a minimally invasive means for obtaining
a DNA sample is utilized. For example, PCR amplification enables
sufficient quantities of DNA for analysis to be obtained from
buccal swabs or fingerprints, which contain DNA-containing skin
cells and oils that are naturally transferred during contact.
[0349] Further information regarding techniques for using SNPs in
forensic/human identification applications can be found, for
example, in Current Protocols in Human Genetics 14.1-14.7, John
Wiley & Sons, N.Y. (2002).
[0350] Variant Proteins, Antibodies, Vectors, Host Cells, &
Uses Thereof
[0351] Variant Proteins Encoded by SNP-Containing Nucleic Acid
Molecules
[0352] The present invention provides SNP-containing nucleic acid
molecules, many of which encode proteins having variant amino acid
sequences as compared to the art-known (i.e., wild-type) proteins.
Amino acid sequences encoded by the polymorphic nucleic acid
molecules of the present invention are referred to as SEQ ID
NOS:17-32 in Table 1 and provided in the Sequence Listing. These
variants will generally be referred to herein as variant
proteins/peptides/polypeptides, or polymorphic
proteins/peptides/polypeptides of the present invention. The terms
"protein," "peptide," and "polypeptide" are used herein
interchangeably.
[0353] A variant protein of the present invention may be encoded
by, for example, a nonsynonymous nucleotide substitution at any one
of the cSNP positions disclosed herein. In addition, variant
proteins may also include proteins whose expression, structure,
and/or function is altered by a SNP disclosed herein, such as a SNP
that creates or destroys a stop codon, a SNP that affects splicing,
and a SNP in control/regulatory elements, e.g. promoters,
enhancers, or transcription factor binding domains.
[0354] As used herein, a protein or peptide is said to be
"isolated" or "purified" when it is substantially free of cellular
material or chemical precursors or other chemicals. The variant
proteins of the present invention can be purified to homogeneity or
other lower degrees of purity. The level of purification will be
based on the intended use. The key feature is that the preparation
allows for the desired function of the variant protein, even if in
the presence of considerable amounts of other components.
[0355] As used herein, "substantially free of cellular material"
includes preparations of the variant protein having less than about
30% (by dry weight) other proteins (i.e., contaminating protein),
less than about 20% other proteins, less than about 10% other
proteins, or less than about 5% other proteins. When the variant
protein is recombinantly produced, it can also be substantially
free of culture medium, i.e., culture medium represents less than
about 20% of the volume of the protein preparation.
[0356] The language "substantially free of chemical precursors or
other chemicals" includes preparations of the variant protein in
which it is separated from chemical precursors or other chemicals
that are involved in its synthesis. In one embodiment, the language
"substantially free of chemical precursors or other chemicals"
includes preparations of the variant protein having less than about
30% (by dry weight) chemical precursors or other chemicals, less
than about 20% chemical precursors or other chemicals, less than
about 10% chemical precursors or other chemicals, or less than
about 5% chemical precursors or other chemicals.
[0357] An isolated variant protein may be purified from cells that
naturally express it, purified from cells that have been altered to
express it (recombinant host cells), or synthesized using known
protein synthesis methods. For example, a nucleic acid molecule
containing SNP(s) encoding the variant protein can be cloned into
an expression vector, the expression vector introduced into a host
cell, and the variant protein expressed in the host cell. The
variant protein can then be isolated from the cells by any
appropriate purification scheme using standard protein purification
techniques. Examples of these techniques are described in detail
below. Sambrook and Russell, Molecular Cloning: A Laboratory
Manual, Cold Spring Harbor Laboratory Press, N.Y. (2000).
[0358] The present invention provides isolated variant proteins
that comprise, consist of or consist essentially of amino acid
sequences that contain one or more variant amino acids encoded by
one or more codons that contain a SNP of the present invention.
[0359] Accordingly, the present invention provides variant proteins
that consist of amino acid sequences that contain one or more amino
acid polymorphisms (or truncations or extensions due to creation or
destruction of a stop codon, respectively) encoded by the SNPs
provided in Table 1 and/or Table 2. A protein consists of an amino
acid sequence when the amino acid sequence is the entire amino acid
sequence of the protein.
[0360] The present invention further provides variant proteins that
consist essentially of amino acid sequences that contain one or
more amino acid polymorphisms (or truncations or extensions due to
creation or destruction of a stop codon, respectively) encoded by
the SNPs provided in Table 1 and/or Table 2. A protein consists
essentially of an amino acid sequence when such an amino acid
sequence is present with only a few additional amino acid residues
in the final protein.
[0361] The present invention further provides variant proteins that
comprise amino acid sequences that contain one or more amino acid
polymorphisms (or truncations or extensions due to creation or
destruction of a stop codon, respectively) encoded by the SNPs
provided in Table 1 and/or Table 2. A protein comprises an amino
acid sequence when the amino acid sequence is at least part of the
final amino acid sequence of the protein. In such a fashion, the
protein may contain only the variant amino acid sequence or have
additional amino acid residues, such as a contiguous encoded
sequence that is naturally associated with it or heterologous amino
acid residues. Such a protein can have a few additional amino acid
residues or can comprise many more additional amino acids. A brief
description of how various types of these proteins can be made and
isolated is provided below.
[0362] The variant proteins of the present invention can be
attached to heterologous sequences to form chimeric or fusion
proteins. Such chimeric and fusion proteins comprise a variant
protein operatively linked to a heterologous protein having an
amino acid sequence not substantially homologous to the variant
protein. "Operatively linked" indicates that the coding sequences
for the variant protein and the heterologous protein are ligated
in-frame. The heterologous protein can be fused to the N-terminus
or C-terminus of the variant protein. In another embodiment, the
fusion protein is encoded by a fusion polynucleotide that is
synthesized by conventional techniques including automated DNA
synthesizers. Alternatively, PCR amplification of gene fragments
can be carried out using anchor primers which give rise to
complementary overhangs between two consecutive gene fragments
which can subsequently be annealed and re-amplified to generate a
chimeric gene sequence. See Ausubel et al., Current Protocols in
Molecular Biology (1992). Moreover, many expression vectors are
commercially available that already encode a fusion moiety (e.g., a
GST protein). A variant protein-encoding nucleic acid can be cloned
into such an expression vector such that the fusion moiety is
linked in-frame to the variant protein.
[0363] In many uses, the fusion protein does not affect the
activity of the variant protein. The fusion protein can include,
but is not limited to, enzymatic fusion proteins, for example,
beta-galactosidase fusions, yeast two-hybrid GAL fusions, poly-His
fusions, MYC-tagged, HI-tagged and Ig fusions. Such fusion
proteins, particularly poly-His fusions, can facilitate their
purification following recombinant expression. In certain host
cells (e.g., mammalian host cells), expression and/or secretion of
a protein can be increased by using a heterologous signal sequence.
Fusion proteins are further described in, for example, Terpe,
"Overview of tag protein fusions: from molecular and biochemical
fundamentals to commercial systems," Appl Microbiol Biotechnol
60(5):523-33 (January 2003); Epub Nov. 7, 2002; Graddis et al.,
"Designing proteins that work using recombinant technologies," Curr
Pharm Biotechnol 3(4):285-97 (December 2002); and Nilsson et al.,
"Affinity fusion strategies for detection, purification, and
immobilization of recombinant proteins," Protein Expr Purif
11(1):1-16 (October 1997).
[0364] In certain embodiments, novel compositions of the present
invention also relate to further obvious variants of the variant
polypeptides of the present invention, such as naturally-occurring
mature forms (e.g., allelic variants), non-naturally occurring
recombinantly-derived variants, and orthologs and paralogs of such
proteins that share sequence homology. Such variants can readily be
generated using art-known techniques in the fields of recombinant
nucleic acid technology and protein biochemistry.
[0365] Further variants of the variant polypeptides disclosed in
Table 1 can comprise an amino acid sequence that shares at least
70-80%, 80-85%, 85-90%, 91%, 92%, 93%, 94%, 95%, 96%, 97%, 98%, or
99% sequence identity with an amino acid sequence disclosed in
Table 1 (or a fragment thereof) and that includes a novel amino
acid residue (allele) disclosed in Table 1 (which is encoded by a
novel SNP allele). Thus, an aspect of the present invention that is
specifically contemplated are polypeptides that have a certain
degree of sequence variation compared with the polypeptide
sequences shown in Table 1, but that contain a novel amino acid
residue (allele) encoded by a novel SNP allele disclosed herein. In
other words, as long as a polypeptide contains a novel amino acid
residue disclosed herein, other portions of the polypeptide that
flank the novel amino acid residue can vary to some degree from the
polypeptide sequences shown in Table 1.
[0366] Full-length pre-processed forms, as well as mature processed
forms, of proteins that comprise one of the amino acid sequences
disclosed herein can readily be identified as having complete
sequence identity to one of the variant proteins of the present
invention as well as being encoded by the same genetic locus as the
variant proteins provided herein.
[0367] Orthologs of a variant peptide can readily be identified as
having some degree of significant sequence homology/identity to at
least a portion of a variant peptide as well as being encoded by a
gene from another organism. Preferred orthologs will be isolated
from non-human mammals, preferably primates, for the development of
human therapeutic targets and agents. Such orthologs can be encoded
by a nucleic acid sequence that hybridizes to a variant
peptide-encoding nucleic acid molecule under moderate to stringent
conditions depending on the degree of relatedness of the two
organisms yielding the homologous proteins.
[0368] Variant proteins include, but are not limited to, proteins
containing deletions, additions and substitutions in the amino acid
sequence caused by the SNPs of the present invention. One class of
substitutions is conserved amino acid substitutions in which a
given amino acid in a polypeptide is substituted for another amino
acid of like characteristics. Typical conservative substitutions
are replacements, one for another, among the aliphatic amino acids
Ala, Val, Leu, and Be; interchange of the hydroxyl residues Ser and
Thr; exchange of the acidic residues Asp and Glu; substitution
between the amide residues Asn and Gln; exchange of the basic
residues Lys and Arg; and replacements among the aromatic residues
Phe and Tyr. Guidance concerning which amino acid changes are
likely to be phenotypically silent are found, for example, in Bowie
et al., Science 247:1306-1310 (1990).
[0369] Variant proteins can be fully functional or can lack
function in one or more activities, e.g. ability to bind another
molecule, ability to catalyze a substrate, ability to mediate
signaling, etc. Fully functional variants typically contain only
conservative variations or variations in non-critical residues or
in non-critical regions. Functional variants can also contain
substitution of similar amino acids that result in no change or an
insignificant change in function. Alternatively, such substitutions
may positively or negatively affect function to some degree.
Non-functional variants typically contain one or more
non-conservative amino acid substitutions, deletions, insertions,
inversions, truncations or extensions, or a substitution,
insertion, inversion, or deletion of a critical residue or in a
critical region.
[0370] Amino acids that are essential for function of a protein can
be identified by methods known in the art, such as site-directed
mutagenesis or alanine-scanning mutagenesis, particularly using the
amino acid sequence and polymorphism information provided in Table
1. Cunningham et al., Science 244:1081-1085 (1989). The latter
procedure introduces single alanine mutations at every residue in
the molecule. The resulting mutant molecules are then tested for
biological activity such as enzyme activity or in assays such as an
in vitro proliferative activity. Sites that are critical for
binding partner/substrate binding can also be determined by
structural analysis such as crystallization, nuclear magnetic
resonance or photoaffinity labeling. Smith et al., J Mol Biol
224:899-904 (1992); de Vos et al., Science 255:306-312 (1992).
[0371] Polypeptides can contain amino acids other than the 20 amino
acids commonly referred to as the 20 naturally occurring amino
acids. Further, many amino acids, including the terminal amino
acids, may be modified by natural processes, such as processing and
other post-translational modifications, or by chemical modification
techniques well known in the art. Accordingly, the variant proteins
of the present invention also encompass derivatives or analogs in
which a substituted amino acid residue is not one encoded by the
genetic code, in which a substituent group is included, in which
the mature polypeptide is fused with another compound, such as a
compound to increase the half-life of the polypeptide (e.g.,
polyethylene glycol), or in which additional amino acids are fused
to the mature polypeptide, such as a leader or secretory sequence
or a sequence for purification of the mature polypeptide or a
pro-protein sequence.
[0372] Known protein modifications include, but are not limited to,
acetylation, acylation, ADP-ribosylation, amidation, covalent
attachment of flavin, covalent attachment of a heme moiety,
covalent attachment of a nucleotide or nucleotide derivative,
covalent attachment of a lipid or lipid derivative, covalent
attachment of phosphotidylinositol, cross-linking, cyclization,
disulfide bond formation, demethylation, formation of covalent
crosslinks, formation of cystine, formation of pyroglutamate,
formylation, gamma carboxylation, glycosylation, GPI anchor
formation, hydroxylation, iodination, methylation, myristoylation,
oxidation, proteolytic processing, phosphorylation, prenylation,
racemization, selenoylation, sulfation, transfer-RNA mediated
addition of amino acids to proteins such as arginylation, and
ubiquitination.
[0373] Such protein modifications are well known to those of skill
in the art and have been described in great detail in the
scientific literature. Particularly common modifications, for
example glycosylation, lipid attachment, sulfation,
gamma-carboxylation of glutamic acid residues, hydroxylation and
ADP-ribosylation, are described in most basic texts, such as
Proteins--Structure and Molecular Properties 2nd Ed., T. E.
Creighton, W.H. Freeman and Company, N.Y. (1993); F. Wold,
Posttranslational Covalent Modification of Proteins 1-12, B. C.
Johnson, ed., Academic Press, N.Y. (1983); Seifter et al., Meth
Enzymol 182:626-646 (1990); and Rattan et al., Ann NY Acad Sci
663:48-62 (1992).
[0374] The present invention further provides fragments of the
variant proteins in which the fragments contain one or more amino
acid sequence variations (e.g., substitutions, or truncations or
extensions due to creation or destruction of a stop codon) encoded
by one or more SNPs disclosed herein. The fragments to which the
invention pertains, however, are not to be construed as
encompassing fragments that have been disclosed in the prior art
before the present invention.
[0375] As used herein, a fragment may comprise at least about 4, 8,
10, 12, 14, 16, 18, 20, 25, 30, 50, 100 (or any other number
in-between) or more contiguous amino acid residues from a variant
protein, wherein at least one amino acid residue is affected by a
SNP of the present invention, e.g., a variant amino acid residue
encoded by a nonsynonymous nucleotide substitution at a cSNP
position provided by the present invention. The variant amino acid
encoded by a cSNP may occupy any residue position along the
sequence of the fragment. Such fragments can be chosen based on the
ability to retain one or more of the biological activities of the
variant protein or the ability to perform a function, e.g., act as
an immunogen. Particularly important fragments are biologically
active fragments. Such fragments will typically comprise a domain
or motif of a variant protein of the present invention, e.g.,
active site, transmembrane domain, or ligand/substrate binding
domain. Other fragments include, but are not limited to, domain or
motif-containing fragments, soluble peptide fragments, and
fragments containing immunogenic structures. Predicted domains and
functional sites are readily identifiable by computer programs well
known to those of skill in the art (e.g., PROSITE analysis).
Current Protocols in Protein Science, John Wiley & Sons, N.Y.
(2002).
[0376] Uses of Variant Proteins
[0377] The variant proteins of the present invention can be used in
a variety of ways, including but not limited to, in assays to
determine the biological activity of a variant protein, such as in
a panel of multiple proteins for high-throughput screening; to
raise antibodies or to elicit another type of immune response; as a
reagent (including the labeled reagent) in assays designed to
quantitatively determine levels of the variant protein (or its
binding partner) in biological fluids; as a marker for cells or
tissues in which it is preferentially expressed (either
constitutively or at a particular stage of tissue differentiation
or development or in a disease state); as a target for screening
for a therapeutic agent; and as a direct therapeutic agent to be
administered into a human subject. Any of the variant proteins
disclosed herein may be developed into reagent grade or kit format
for commercialization as research products. Methods for performing
the uses listed above are well known to those skilled in the art.
See, e.g., Molecular Cloning: A Laboratory Manual, Sambrook and
Russell, Cold Spring Harbor Laboratory Press, N.Y. (2000), and
Methods in Enzymology: Guide to Molecular Cloning Techniques, S. L.
Berger and A. R. Kimmel, eds., Academic Press (1987).
[0378] In a specific embodiment of the invention, the methods of
the present invention include detection of one or more variant
proteins disclosed herein. Variant proteins are disclosed in Table
1 and in the Sequence Listing as SEQ ID NOS:17-32. Detection of
such proteins can be accomplished using, for example, antibodies,
small molecule compounds, aptamers, ligands/substrates, other
proteins or protein fragments, or other protein-binding agents.
Preferably, protein detection agents are specific for a variant
protein of the present invention and can therefore discriminate
between a variant protein of the present invention and the
wild-type protein or another variant form. This can generally be
accomplished by, for example, selecting or designing detection
agents that bind to the region of a protein that differs between
the variant and wild-type protein, such as a region of a protein
that contains one or more amino acid substitutions that is/are
encoded by a non-synonymous cSNP of the present invention, or a
region of a protein that follows a nonsense mutation-type SNP that
creates a stop codon thereby leading to a shorter polypeptide, or a
region of a protein that follows a read-through mutation-type SNP
that destroys a stop codon thereby leading to a longer polypeptide
in which a portion of the polypeptide is present in one version of
the polypeptide but not the other.
[0379] In another specific aspect of the invention, the variant
proteins of the present invention are used as targets for
diagnosing or prognosing autoimmune disease or for determining
predisposition to autoimmune disease in a human, for treating
and/or preventing autoimmune disease, or for predicting an
individual's response to TNF inhibitor treatment (particularly
treatment or prevention of autoimmune disease using TNF
inhibitors), etc. Accordingly, the invention provides methods for
detecting the presence of, or levels of, one or more variant
proteins of the present invention in a cell, tissue, or organism.
Such methods typically involve contacting a test sample with an
agent (e.g., an antibody, small molecule compound, or peptide)
capable of interacting with the variant protein such that specific
binding of the agent to the variant protein can be detected. Such
an assay can be provided in a single detection format or a
multi-detection format such as an array, for example, an antibody
or aptamer array (arrays for protein detection may also be referred
to as "protein chips"). The variant protein of interest can be
isolated from a test sample and assayed for the presence of a
variant amino acid sequence encoded by one or more SNPs disclosed
by the present invention. The SNPs may cause changes to the protein
and the corresponding protein function/activity, such as through
non-synonymous substitutions in protein coding regions that can
lead to amino acid substitutions, deletions, insertions, and/or
rearrangements; formation or destruction of stop codons; or
alteration of control elements such as promoters. SNPs may also
cause inappropriate post-translational modifications.
[0380] One preferred agent for detecting a variant protein in a
sample is an antibody capable of selectively binding to a variant
form of the protein (antibodies are described in greater detail in
the next section). Such samples include, for example, tissues,
cells, and biological fluids isolated from a subject, as well as
tissues, cells and fluids present within a subject.
[0381] In vitro methods for detection of the variant proteins
associated with autoimmune disease that are disclosed herein and
fragments thereof include, but are not limited to, enzyme linked
immunosorbent assays (ELISAs), radioimmunoassays (RIA), Western
blots, immunoprecipitations, immunofluorescence, and protein
arrays/chips (e.g., arrays of antibodies or aptamers). For further
information regarding immunoassays and related protein detection
methods, see Current Protocols in Immunology, John Wiley &
Sons, N.Y., and Hage, "Immunoassays," Anal Chem 15;
71(12):294R-304R (June 1999).
[0382] Additional analytic methods of detecting amino acid variants
include, but are not limited to, altered electrophoretic mobility,
altered tryptic peptide digest, altered protein activity in
cell-based or cell-free assay, alteration in ligand or
antibody-binding pattern, altered isoelectric point, and direct
amino acid sequencing.
[0383] Alternatively, variant proteins can be detected in vivo in a
subject by introducing into the subject a labeled antibody (or
other type of detection reagent) specific for a variant protein.
For example, the antibody can be labeled with a radioactive marker
whose presence and location in a subject can be detected by
standard imaging techniques.
[0384] Other uses of the variant peptides of the present invention
are based on the class or action of the protein. For example,
proteins isolated from humans and their mammalian orthologs serve
as targets for identifying agents (e.g., small molecule drugs or
antibodies) for use in therapeutic applications, particularly for
modulating a biological or pathological response in a cell or
tissue that expresses the protein. Pharmaceutical agents can be
developed that modulate protein activity.
[0385] As an alternative to modulating gene expression, therapeutic
compounds can be developed that modulate protein function. For
example, many SNPs disclosed herein affect the amino acid sequence
of the encoded protein (e.g., non-synonymous cSNPs and nonsense
mutation-type SNPs). Such alterations in the encoded amino acid
sequence may affect protein function, particularly if such amino
acid sequence variations occur in functional protein domains, such
as catalytic domains, ATP-binding domains, or ligand/substrate
binding domains. It is well established in the art that variant
proteins having amino acid sequence variations in functional
domains can cause or influence pathological conditions. In such
instances, compounds (e.g., small molecule drugs or antibodies) can
be developed that target the variant protein and modulate (e.g.,
up- or down-regulate) protein function/activity.
[0386] The therapeutic methods of the present invention further
include methods that target one or more variant proteins of the
present invention. Variant proteins can be targeted using, for
example, small molecule compounds, antibodies, aptamers,
ligands/substrates, other proteins, or other protein-binding
agents. Additionally, the skilled artisan will recognize that the
novel protein variants (and polymorphic nucleic acid molecules)
disclosed in Table 1 may themselves be directly used as therapeutic
agents by acting as competitive inhibitors of corresponding
art-known proteins (or nucleic acid molecules such as mRNA
molecules).
[0387] The variant proteins of the present invention are
particularly useful in drug screening assays, in cell-based or
cell-free systems. Cell-based systems can utilize cells that
naturally express the protein, a biopsy specimen, or cell cultures.
In one embodiment, cell-based assays involve recombinant host cells
expressing the variant protein. Cell-free assays can be used to
detect the ability of a compound to directly bind to a variant
protein or to the corresponding SNP-containing nucleic acid
fragment that encodes the variant protein.
[0388] A variant protein of the present invention, as well as
appropriate fragments thereof, can be used in high-throughput
screening assays to test candidate compounds for the ability to
bind and/or modulate the activity of the variant protein. These
candidate compounds can be further screened against a protein
having normal function (e.g., a wild-type/non-variant protein) to
further determine the effect of the compound on the protein
activity. Furthermore, these compounds can be tested in animal or
invertebrate systems to determine in vivo activity/effectiveness.
Compounds can be identified that activate (agonists) or inactivate
(antagonists) the variant protein, and different compounds can be
identified that cause various degrees of activation or inactivation
of the variant protein.
[0389] Further, the variant proteins can be used to screen a
compound for the ability to stimulate or inhibit interaction
between the variant protein and a target molecule that normally
interacts with the protein. The target can be a ligand, a substrate
or a binding partner that the protein normally interacts with (for
example, epinephrine or norepinephrine). Such assays typically
include the steps of combining the variant protein with a candidate
compound under conditions that allow the variant protein, or
fragment thereof, to interact with the target molecule, and to
detect the formation of a complex between the protein and the
target or to detect the biochemical consequence of the interaction
with the variant protein and the target, such as any of the
associated effects of signal transduction.
[0390] Candidate compounds include, for example, 1) peptides such
as soluble peptides, including Ig-tailed fusion peptides and
members of random peptide libraries (see, e.g., Lam et al., Nature
354:82-84 (1991); Houghten et al., Nature 354:84-86 (1991)) and
combinatorial chemistry-derived molecular libraries made of D-
and/or L-configuration amino acids; 2) phosphopeptides (e.g.,
members of random and partially degenerate, directed phosphopeptide
libraries, see, e.g., Songyang et al., Cell 72:767-778 (1993)); 3)
antibodies (e.g., polyclonal, monoclonal, humanized,
anti-idiotypic, chimeric, and single chain antibodies as well as
Fab, F(ab').sub.2, Fab expression library fragments, and
epitope-binding fragments of antibodies); and 4) small organic and
inorganic molecules (e.g., molecules obtained from combinatorial
and natural product libraries).
[0391] One candidate compound is a soluble fragment of the variant
protein that competes for ligand binding. Other candidate compounds
include mutant proteins or appropriate fragments containing
mutations that affect variant protein function and thus compete for
ligand. Accordingly, a fragment that competes for ligand, for
example with a higher affinity, or a fragment that binds ligand but
does not allow release, is encompassed by the invention.
[0392] The invention further includes other end point assays to
identify compounds that modulate (stimulate or inhibit) variant
protein activity. The assays typically involve an assay of events
in the signal transduction pathway that indicate protein activity.
Thus, the expression of genes that are up or down-regulated in
response to the variant protein dependent signal cascade can be
assayed. In one embodiment, the regulatory region of such genes can
be operably linked to a marker that is easily detectable, such as
luciferase. Alternatively, phosphorylation of the variant protein,
or a variant protein target, could also be measured. Any of the
biological or biochemical functions mediated by the variant protein
can be used as an endpoint assay. These include all of the
biochemical or biological events described herein, in the
references cited herein, incorporated by reference for these
endpoint assay targets, and other functions known to those of
ordinary skill in the art.
[0393] Binding and/or activating compounds can also be screened by
using chimeric variant proteins in which an amino terminal
extracellular domain or parts thereof, an entire transmembrane
domain or subregions, and/or the carboxyl terminal intracellular
domain or parts thereof, can be replaced by heterologous domains or
subregions. For example, a substrate-binding region can be used
that interacts with a different substrate than that which is
normally recognized by a variant protein. Accordingly, a different
set of signal transduction components is available as an end-point
assay for activation. This allows for assays to be performed in
other than the specific host cell from which the variant protein is
derived.
[0394] The variant proteins are also useful in competition binding
assays in methods designed to discover compounds that interact with
the variant protein. Thus, a compound can be exposed to a variant
protein under conditions that allow the compound to bind or to
otherwise interact with the variant protein. A binding partner,
such as ligand, that normally interacts with the variant protein is
also added to the mixture. If the test compound interacts with the
variant protein or its binding partner, it decreases the amount of
complex formed or activity from the variant protein. This type of
assay is particularly useful in screening for compounds that
interact with specific regions of the variant protein. Hodgson,
Bio/technology, 10(9), 973-80 (September 1992).
[0395] To perform cell-free drug screening assays, it is sometimes
desirable to immobilize either the variant protein or a fragment
thereof, or its target molecule, to facilitate separation of
complexes from uncomplexed forms of one or both of the proteins, as
well as to accommodate automation of the assay. Any method for
immobilizing proteins on matrices can be used in drug screening
assays. In one embodiment, a fusion protein containing an added
domain allows the protein to be bound to a matrix. For example,
glutathione-S-transferase/.sup.125I fusion proteins can be adsorbed
onto glutathione sepharose beads (Sigma Chemical, St. Louis, Mo.)
or glutathione derivatized microtitre plates, which are then
combined with the cell lysates (e.g., .sup.35S-labeled) and a
candidate compound, such as a drug candidate, and the mixture
incubated under conditions conducive to complex formation (e.g., at
physiological conditions for salt and pH). Following incubation,
the beads can be washed to remove any unbound label, and the matrix
immobilized and radiolabel determined directly, or in the
supernatant after the complexes are dissociated. Alternatively, the
complexes can be dissociated from the matrix, separated by
SDS-PAGE, and the level of bound material found in the bead
fraction quantitated from the gel using standard electrophoretic
techniques.
[0396] Either the variant protein or its target molecule can be
immobilized utilizing conjugation of biotin and streptavidin.
Alternatively, antibodies reactive with the variant protein but
which do not interfere with binding of the variant protein to its
target molecule can be derivatized to the wells of the plate, and
the variant protein trapped in the wells by antibody conjugation.
Preparations of the target molecule and a candidate compound are
incubated in the variant protein-presenting wells and the amount of
complex trapped in the well can be quantitated. Methods for
detecting such complexes, in addition to those described above for
the GST-immobilized complexes, include immunodetection of complexes
using antibodies reactive with the protein target molecule, or
which are reactive with variant protein and compete with the target
molecule, and enzyme-linked assays that rely on detecting an
enzymatic activity associated with the target molecule.
[0397] Modulators of variant protein activity identified according
to these drug screening assays can be used to treat a subject with
a disorder mediated by the protein pathway, such as autoimmune
disease. These methods of treatment typically include the steps of
administering the modulators of protein activity in a
pharmaceutical composition to a subject in need of such
treatment.
[0398] The variant proteins, or fragments thereof, disclosed herein
can themselves be directly used to treat a disorder characterized
by an absence of, inappropriate, or unwanted expression or activity
of the variant protein. Accordingly, methods for treatment include
the use of a variant protein disclosed herein or fragments
thereof.
[0399] In yet another aspect of the invention, variant proteins can
be used as "bait proteins" in a two-hybrid assay or three-hybrid
assay to identify other proteins that bind to or interact with the
variant protein and are involved in variant protein activity. See,
e.g., U.S. Pat. No. 5,283,317; Zervos et al., Cell 72:223-232
(1993); Madura et al., J Biol Chem 268:12046-12054 (1993); Bartel
et al., Biotechniques 14:920-924 (1993); Iwabuchi et al., Oncogene
8:1693-1696 (1993); and Brent, WO 94/10300. Such variant
protein-binding proteins are also likely to be involved in the
propagation of signals by the variant proteins or variant protein
targets as, for example, elements of a protein-mediated signaling
pathway. Alternatively, such variant protein-binding proteins are
inhibitors of the variant protein.
[0400] The two-hybrid system is based on the modular nature of most
transcription factors, which typically consist of separable
DNA-binding and activation domains. Briefly, the assay typically
utilizes two different DNA constructs. In one construct, the gene
that codes for a variant protein is fused to a gene encoding the
DNA binding domain of a known transcription factor (e.g., GAL-4).
In the other construct, a DNA sequence, from a library of DNA
sequences, that encodes an unidentified protein ("prey" or
"sample") is fused to a gene that codes for the activation domain
of the known transcription factor. If the "bait" and the "prey"
proteins are able to interact, in vivo, forming a variant
protein-dependent complex, the DNA-binding and activation domains
of the transcription factor are brought into close proximity. This
proximity allows transcription of a reporter gene (e.g., LacZ) that
is operably linked to a transcriptional regulatory site responsive
to the transcription factor. Expression of the reporter gene can be
detected, and cell colonies containing the functional transcription
factor can be isolated and used to obtain the cloned gene that
encodes the protein that interacts with the variant protein.
[0401] Antibodies Directed to Variant Proteins
[0402] The present invention also provides antibodies that
selectively bind to the variant proteins disclosed herein and
fragments thereof. Such antibodies may be used to quantitatively or
qualitatively detect the variant proteins of the present invention.
As used herein, an antibody selectively binds a target variant
protein when it binds the variant protein and does not
significantly bind to non-variant proteins, i.e., the antibody does
not significantly bind to normal, wild-type, or art-known proteins
that do not contain a variant amino acid sequence due to one or
more SNPs of the present invention (variant amino acid sequences
may be due to, for example, nonsynonymous cSNPs, nonsense SNPs that
create a stop codon, thereby causing a truncation of a polypeptide
or SNPs that cause read-through mutations resulting in an extension
of a polypeptide).
[0403] As used herein, an antibody is defined in terms consistent
with that recognized in the art: they are multi-subunit proteins
produced by an organism in response to an antigen challenge. The
antibodies of the present invention include both monoclonal
antibodies and polyclonal antibodies, as well as antigen-reactive
proteolytic fragments of such antibodies, such as Fab,
F(ab)'.sub.2, and Fv fragments. In addition, an antibody of the
present invention further includes any of a variety of engineered
antigen-binding molecules such as a chimeric antibody (U.S. Pat.
Nos. 4,816,567 and 4,816,397; Morrison et al., Proc Natl Acad Sci
USA 81:6851 (1984); Neuberger et al., Nature 312:604 (1984)), a
humanized antibody (U.S. Pat. Nos. 5,693,762; 5,585,089 and
5,565,332), a single-chain Fv (U.S. Pat. No. 4,946,778; Ward et
al., Nature 334:544 (1989)), a bispecific antibody with two binding
specificities (Segal et al., J Immunol Methods 248:1 (2001);
Carter, J Immunol Methods 248:7 (2001)), a diabody, a triabody, and
a tetrabody (Todorovska et al., J Immunol Methods 248:47 (2001)),
as well as a Fab conjugate (dimer or trimer), and a minibody.
[0404] Many methods are known in the art for generating and/or
identifying antibodies to a given target antigen. Harlow,
Antibodies, Cold Spring Harbor Press, N.Y. (1989). In general, an
isolated peptide (e.g., a variant protein of the present invention)
is used as an immunogen and is administered to a mammalian
organism, such as a rat, rabbit, hamster or mouse. Either a
full-length protein, an antigenic peptide fragment (e.g., a peptide
fragment containing a region that varies between a variant protein
and a corresponding wild-type protein), or a fusion protein can be
used. A protein used as an immunogen may be naturally-occurring,
synthetic or recombinantly produced, and may be administered in
combination with an adjuvant, including but not limited to,
Freund's (complete and incomplete), mineral gels such as aluminum
hydroxide, surface active substance such as lysolecithin, pluronic
polyols, polyanions, peptides, oil emulsions, keyhole limpet
hemocyanin, dinitrophenol, and the like.
[0405] Monoclonal antibodies can be produced by hybridoma
technology, which immortalizes cells secreting a specific
monoclonal antibody. Kohler and Milstein, Nature 256:495 (1975).
The immortalized cell lines can be created in vitro by fusing two
different cell types, typically lymphocytes, and tumor cells. The
hybridoma cells may be cultivated in vitro or in vivo.
Additionally, fully human antibodies can be generated by transgenic
animals. He et al., J Immunol 169:595 (2002). Fd phage and Fd
phagemid technologies may be used to generate and select
recombinant antibodies in vitro. Hoogenboom and Chames, Immunol
Today 21:371 (2000); Liu et al., J Mol Biol 315:1063 (2002). The
complementarity-determining regions of an antibody can be
identified, and synthetic peptides corresponding to such regions
may be used to mediate antigen binding. U.S. Pat. No.
5,637,677.
[0406] Antibodies are preferably prepared against regions or
discrete fragments of a variant protein containing a variant amino
acid sequence as compared to the corresponding wild-type protein
(e.g., a region of a variant protein that includes an amino acid
encoded by a nonsynonymous cSNP, a region affected by truncation
caused by a nonsense SNP that creates a stop codon, or a region
resulting from the destruction of a stop codon due to read-through
mutation caused by a SNP). Furthermore, preferred regions will
include those involved in function/activity and/or protein/binding
partner interaction. Such fragments can be selected on a physical
property, such as fragments corresponding to regions that are
located on the surface of the protein, e.g., hydrophilic regions,
or can be selected based on sequence uniqueness, or based on the
position of the variant amino acid residue(s) encoded by the SNPs
provided by the present invention. An antigenic fragment will
typically comprise at least about 8-10 contiguous amino acid
residues in which at least one of the amino acid residues is an
amino acid affected by a SNP disclosed herein. The antigenic
peptide can comprise, however, at least 12, 14, 16, 20, 25, 50, 100
(or any other number in-between) or more amino acid residues,
provided that at least one amino acid is affected by a SNP
disclosed herein.
[0407] Detection of an antibody of the present invention can be
facilitated by coupling (i.e., physically linking) the antibody or
an antigen-reactive fragment thereof to a detectable substance.
Detectable substances include, but are not limited to, various
enzymes, prosthetic groups, fluorescent materials, luminescent
materials, bioluminescent materials, and radioactive materials.
Examples of suitable enzymes include horseradish peroxidase,
alkaline phosphatase, .beta.-galactosidase, or
acetylcholinesterase; examples of suitable prosthetic group
complexes include streptavidin/biotin and avidin/biotin; examples
of suitable fluorescent materials include umbelliferone,
fluorescein, fluorescein isothiocyanate, rhodamine,
dichlorotriazinylamine fluorescein, dansyl chloride or
phycoerythrin; an example of a luminescent material includes
luminol; examples of bioluminescent materials include luciferase,
luciferin, and aequorin, and examples of suitable radioactive
material include .sup.125I, .sup.131I, .sup.35S or .sup.3H.
[0408] Antibodies, particularly the use of antibodies as
therapeutic agents, are reviewed in: Morgan, "Antibody therapy for
Alzheimer's disease," Expert Rev Vaccines (1):53-9 (February 2003);
Ross et al., "Anticancer antibodies," Am J Clin Pathol
119(4):472-85 (April 2003); Goldenberg, "Advancing role of
radiolabeled antibodies in the therapy of cancer," Cancer Immunol
Immunother 52(5):281-96 (May 2003); Epub Mar. 11, 2003; Ross et
al., "Antibody-based therapeutics in oncology," Expert Rev
Anticancer Ther 3(1):107-21 (February 2003); Cao et al.,
"Bispecific antibody conjugates in therapeutics," Adv Drug Deliv
Rev 55(2):171-97 (February 2003); von Mehren et al., "Monoclonal
antibody therapy for cancer," Annu Rev Med 54:343-69 (2003); Epub
Dec. 3, 2001; Hudson et al., "Engineered antibodies," Nat Med
9(1):129-34 (January 2003); Brekke et al., "Therapeutic antibodies
for human diseases at the dawn of the twenty-first century," Nat
Rev Drug Discov 2(1):52-62 (January 2003); Erratum in: Nat Rev Drug
Discov 2(3):240 (March 2003); Houdebine, "Antibody manufacture in
transgenic animals and comparisons with other systems," Curr Opin
Biotechnol 13(6):625-9 (December 2002); Andreakos et al.,
"Monoclonal antibodies in immune and inflammatory diseases," Curr
Opin Biotechnol 13(6):615-20 (December 2002); Kellermann et al.,
"Antibody discovery: the use of transgenic mice to generate human
monoclonal antibodies for therapeutics," Curr Opin Biotechnol
13(6):593-7 (December 2002); Pini et al., "Phage display and colony
filter screening for high-throughput selection of antibody
libraries," Comb Chem High Throughput Screen 5(7):503-10 (November
2002); Batra et al., "Pharmacokinetics and biodistribution of
genetically engineered antibodies," Curr Opin Biotechnol
13(6):603-8 (December 2002); and Tangri et al., "Rationally
engineered proteins or antibodies with absent or reduced
immunogenicity," Curr Med Chem 9(24):2191-9 (December 2002).
[0409] Uses of Antibodies
[0410] Antibodies can be used to isolate the variant proteins of
the present invention from a natural cell source or from
recombinant host cells by standard techniques, such as affinity
chromatography or immunoprecipitation. In addition, antibodies are
useful for detecting the presence of a variant protein of the
present invention in cells or tissues to determine the pattern of
expression of the variant protein among various tissues in an
organism and over the course of normal development or disease
progression. Further, antibodies can be used to detect variant
protein in situ, in vitro, in a bodily fluid, or in a cell lysate
or supernatant in order to evaluate the amount and pattern of
expression. Also, antibodies can be used to assess abnormal tissue
distribution, abnormal expression during development, or expression
in an abnormal condition, such as in autoimmune disease, or during
TNF inhibitor treatment. Additionally, antibody detection of
circulating fragments of the full-length variant protein can be
used to identify turnover.
[0411] Antibodies to the variant proteins of the present invention
are also useful in pharmacogenomic analysis. Thus, antibodies
against variant proteins encoded by alternative SNP alleles can be
used to identify individuals that require modified treatment
modalities.
[0412] Further, antibodies can be used to assess expression of the
variant protein in disease states such as in active stages of the
disease or in an individual with a predisposition to a disease
related to the protein's function, such as autoimmune disease, or
during the course of a treatment regime, such as during TNF
inhibitor treatment. Antibodies specific for a variant protein
encoded by a SNP-containing nucleic acid molecule of the present
invention can be used to assay for the presence of the variant
protein, such as to diagnose or prognose autoimmune disease or to
predict an individual's response to TNF inhibitor treatment or
predisposition/susceptibility to autoimmune disease, as indicated
by the presence of the variant protein.
[0413] Antibodies are also useful as diagnostic tools for
evaluating the variant proteins in conjunction with analysis by
electrophoretic mobility, isoelectric point, tryptic peptide
digest, and other physical assays well known in the art.
[0414] Antibodies are also useful for tissue typing. Thus, where a
specific variant protein has been correlated with expression in a
specific tissue, antibodies that are specific for this protein can
be used to identify a tissue type.
[0415] Antibodies can also be used to assess aberrant subcellular
localization of a variant protein in cells in various tissues. The
diagnostic uses can be applied, not only in genetic testing, but
also in monitoring a treatment modality. Accordingly, where
treatment is ultimately aimed at correcting the expression level or
the presence of variant protein or aberrant tissue distribution or
developmental expression of a variant protein, antibodies directed
against the variant protein or relevant fragments can be used to
monitor therapeutic efficacy.
[0416] The antibodies are also useful for inhibiting variant
protein function, for example, by blocking the binding of a variant
protein to a binding partner. These uses can also be applied in a
therapeutic context in which treatment involves inhibiting a
variant protein's function. An antibody can be used, for example,
to block or competitively inhibit binding, thus modulating
(agonizing or antagonizing) the activity of a variant protein.
Antibodies can be prepared against specific variant protein
fragments containing sites required for function or against an
intact variant protein that is associated with a cell or cell
membrane. For in vivo administration, an antibody may be linked
with an additional therapeutic payload such as a radionuclide, an
enzyme, an immunogenic epitope, or a cytotoxic agent. Suitable
cytotoxic agents include, but are not limited to, bacterial toxin
such as diphtheria, and plant toxin such as ricin. The in vivo
half-life of an antibody or a fragment thereof may be lengthened by
pegylation through conjugation to polyethylene glycol. Leong et
al., Cytokine 16:106 (2001).
[0417] The invention also encompasses kits for using antibodies,
such as kits for detecting the presence of a variant protein in a
test sample. An exemplary kit can comprise antibodies such as a
labeled or labelable antibody and a compound or agent for detecting
variant proteins in a biological sample; means for determining the
amount, or presence/absence of variant protein in the sample; means
for comparing the amount of variant protein in the sample with a
standard; and instructions for use.
[0418] Vectors and Host Cells
[0419] The present invention also provides vectors containing the
SNP-containing nucleic acid molecules described herein. The term
"vector" refers to a vehicle, preferably a nucleic acid molecule,
which can transport a SNP-containing nucleic acid molecule. When
the vector is a nucleic acid molecule, the SNP-containing nucleic
acid molecule can be covalently linked to the vector nucleic acid.
Such vectors include, but are not limited to, a plasmid, single or
double stranded phage, a single or double stranded RNA or DNA viral
vector, or artificial chromosome, such as a BAC, PAC, YAC, or
MAC.
[0420] A vector can be maintained in a host cell as an
extrachromosomal element where it replicates and produces
additional copies of the SNP-containing nucleic acid molecules.
Alternatively, the vector may integrate into the host cell genome
and produce additional copies of the SNP-containing nucleic acid
molecules when the host cell replicates.
[0421] The invention provides vectors for the maintenance (cloning
vectors) or vectors for expression (expression vectors) of the
SNP-containing nucleic acid molecules. The vectors can function in
prokaryotic or eukaryotic cells or in both (shuttle vectors).
[0422] Expression vectors typically contain cis-acting regulatory
regions that are operably linked in the vector to the
SNP-containing nucleic acid molecules such that transcription of
the SNP-containing nucleic acid molecules is allowed in a host
cell. The SNP-containing nucleic acid molecules can also be
introduced into the host cell with a separate nucleic acid molecule
capable of affecting transcription. Thus, the second nucleic acid
molecule may provide a trans-acting factor interacting with the
cis-regulatory control region to allow transcription of the
SNP-containing nucleic acid molecules from the vector.
Alternatively, a trans-acting factor may be supplied by the host
cell. Finally, a trans-acting factor can be produced from the
vector itself. It is understood, however, that in some embodiments,
transcription and/or translation of the nucleic acid molecules can
occur in a cell-free system.
[0423] The regulatory sequences to which the SNP-containing nucleic
acid molecules described herein can be operably linked include
promoters for directing mRNA transcription. These include, but are
not limited to, the left promoter from bacteriophage .lamda., the
lac, TRP, and TAC promoters from E. coli, the early and late
promoters from SV40, the CMV immediate early promoter, the
adenovirus early and late promoters, and retrovirus long-terminal
repeats.
[0424] In addition to control regions that promote transcription,
expression vectors may also include regions that modulate
transcription, such as repressor binding sites and enhancers.
Examples include the SV40 enhancer, the cytomegalovirus immediate
early enhancer, polyoma enhancer, adenovirus enhancers, and
retrovirus LTR enhancers.
[0425] In addition to containing sites for transcription initiation
and control, expression vectors can also contain sequences
necessary for transcription termination and, in the transcribed
region, a ribosome-binding site for translation. Other regulatory
control elements for expression include initiation and termination
codons as well as polyadenylation signals. A person of ordinary
skill in the art would be aware of the numerous regulatory
sequences that are useful in expression vectors. See, e.g.,
Sambrook and Russell, Molecular Cloning: A Laboratory Manual, Cold
Spring Harbor Laboratory Press, N.Y. (2000).
[0426] A variety of expression vectors can be used to express a
SNP-containing nucleic acid molecule. Such vectors include
chromosomal, episomal, and virus-derived vectors, for example,
vectors derived from bacterial plasmids, from bacteriophage, from
yeast episomes, from yeast chromosomal elements, including yeast
artificial chromosomes, from viruses such as baculoviruses,
papovaviruses such as SV40, Vaccinia viruses, adenoviruses,
poxviruses, pseudorabies viruses, and retroviruses. Vectors can
also be derived from combinations of these sources such as those
derived from plasmid and bacteriophage genetic elements, e.g.,
cosmids and phagemids. Appropriate cloning and expression vectors
for prokaryotic and eukaryotic hosts are described in Sambrook and
Russell, Molecular Cloning: A Laboratory Manual, Cold Spring Harbor
Laboratory Press, N.Y. (2000).
[0427] The regulatory sequence in a vector may provide constitutive
expression in one or more host cells (e.g., tissue specific
expression) or may provide for inducible expression in one or more
cell types such as by temperature, nutrient additive, or exogenous
factor, e.g., a hormone or other ligand. A variety of vectors that
provide constitutive or inducible expression of a nucleic acid
sequence in prokaryotic and eukaryotic host cells are well known to
those of ordinary skill in the art.
[0428] A SNP-containing nucleic acid molecule can be inserted into
the vector by methodology well-known in the art. Generally, the
SNP-containing nucleic acid molecule that will ultimately be
expressed is joined to an expression vector by cleaving the
SNP-containing nucleic acid molecule and the expression vector with
one or more restriction enzymes and then ligating the fragments
together. Procedures for restriction enzyme digestion and ligation
are well known to those of ordinary skill in the art.
[0429] The vector containing the appropriate nucleic acid molecule
can be introduced into an appropriate host cell for propagation or
expression using well-known techniques. Bacterial host cells
include, but are not limited to, Escherichia coli, Streptomyces
spp., and Salmonella typhimurium. Eukaryotic host cells include,
but are not limited to, yeast, insect cells such as Drosophila
spp., animal cells such as COS and CHO cells, and plant cells.
[0430] As described herein, it may be desirable to express the
variant peptide as a fusion protein. Accordingly, the invention
provides fusion vectors that allow for the production of the
variant peptides. Fusion vectors can, for example, increase the
expression of a recombinant protein, increase the solubility of the
recombinant protein, and aid in the purification of the protein by
acting, for example, as a ligand for affinity purification. A
proteolytic cleavage site may be introduced at the junction of the
fusion moiety so that the desired variant peptide can ultimately be
separated from the fusion moiety. Proteolytic enzymes suitable for
such use include, but are not limited to, factor Xa, thrombin, and
enterokinase. Typical fusion expression vectors include pGEX (Smith
et al., Gene 67:31-40 (1988)), pMAL (New England Biolabs, Beverly,
Mass.) and pRIT5 (Pharmacia, Piscataway, N.J.) which fuse
glutathione S-transferase (GST), maltose E binding protein, or
protein A, respectively, to the target recombinant protein.
Examples of suitable inducible non-fusion E. coli expression
vectors include pTrc (Amann et al., Gene 69:301-315 (1988)) and pET
11d (Studier et al., Gene Expression Technology: Methods in
Enzymology 185:60-89 (1990)).
[0431] Recombinant protein expression can be maximized in a
bacterial host by providing a genetic background wherein the host
cell has an impaired capacity to proteolytically cleave the
recombinant protein (S. Gottesman, Gene Expression Technology:
Methods in Enzymology 185:119-128, Academic Press, Calif. (1990)).
Alternatively, the sequence of the SNP-containing nucleic acid
molecule of interest can be altered to provide preferential codon
usage for a specific host cell, for example, E. coli. Wada et al.,
Nucleic Acids Res 20:2111-2118 (1992).
[0432] The SNP-containing nucleic acid molecules can also be
expressed by expression vectors that are operative in yeast.
Examples of vectors for expression in yeast (e.g., S. cerevisiae)
include pYepSec 1 (Baldari et al., EMBO J. 6:229-234 (1987)), pMFa
(Kurjan et al., Cell 30:933-943 (1982)), pJRY88 (Schultz et al.,
Gene 54:113-123 (1987)), and pYES2 (Invitrogen Corporation, San
Diego, Calif.).
[0433] The SNP-containing nucleic acid molecules can also be
expressed in insect cells using, for example, baculovirus
expression vectors. Baculovirus vectors available for expression of
proteins in cultured insect cells (e.g., Sf 9 cells) include the
pAc series (Smith et al., Mol Cell Biol 3:2156-2165 (1983)) and the
pVL series (Lucklow et al., Virology 170:31-39 (1989)).
[0434] In certain embodiments of the invention, the SNP-containing
nucleic acid molecules described herein are expressed in mammalian
cells using mammalian expression vectors. Examples of mammalian
expression vectors include pCDM8 (B. Seed, Nature 329:840 (1987))
and pMT2PC (Kaufman et al., EMBO J. 6:187-195 (1987)).
[0435] The invention also encompasses vectors in which the
SNP-containing nucleic acid molecules described herein are cloned
into the vector in reverse orientation, but operably linked to a
regulatory sequence that permits transcription of antisense RNA.
Thus, an antisense transcript can be produced to the SNP-containing
nucleic acid sequences described herein, including both coding and
non-coding regions. Expression of this antisense RNA is subject to
each of the parameters described above in relation to expression of
the sense RNA (regulatory sequences, constitutive or inducible
expression, tissue-specific expression).
[0436] The invention also relates to recombinant host cells
containing the vectors described herein. Host cells therefore
include, for example, prokaryotic cells, lower eukaryotic cells
such as yeast, other eukaryotic cells such as insect cells, and
higher eukaryotic cells such as mammalian cells.
[0437] The recombinant host cells can be prepared by introducing
the vector constructs described herein into the cells by techniques
readily available to persons of ordinary skill in the art. These
include, but are not limited to, calcium phosphate transfection,
DEAE-dextran-mediated transfection, cationic lipid-mediated
transfection, electroporation, transduction, infection,
lipofection, and other techniques such as those described in
Sambrook and Russell, Molecular Cloning: A Laboratory Manual, Cold
Spring Harbor Laboratory, Cold Spring Harbor Laboratory Press, N.Y.
(2000).
[0438] Host cells can contain more than one vector. Thus, different
SNP-containing nucleotide sequences can be introduced in different
vectors into the same cell. Similarly, the SNP-containing nucleic
acid molecules can be introduced either alone or with other nucleic
acid molecules that are not related to the SNP-containing nucleic
acid molecules, such as those providing trans-acting factors for
expression vectors. When more than one vector is introduced into a
cell, the vectors can be introduced independently, co-introduced,
or joined to the nucleic acid molecule vector.
[0439] In the case of bacteriophage and viral vectors, these can be
introduced into cells as packaged or encapsulated virus by standard
procedures for infection and transduction. Viral vectors can be
replication-competent or replication-defective. In the case in
which viral replication is defective, replication can occur in host
cells that provide functions that complement the defects.
[0440] Vectors generally include selectable markers that enable the
selection of the subpopulation of cells that contain the
recombinant vector constructs. The marker can be inserted in the
same vector that contains the SNP-containing nucleic acid molecules
described herein or may be in a separate vector. Markers include,
for example, tetracycline or ampicillin-resistance genes for
prokaryotic host cells, and dihydrofolate reductase or neomycin
resistance genes for eukaryotic host cells. However, any marker
that provides selection for a phenotypic trait can be
effective.
[0441] While the mature variant proteins can be produced in
bacteria, yeast, mammalian cells, and other cells under the control
of the appropriate regulatory sequences, cell-free transcription
and translation systems can also be used to produce these variant
proteins using RNA derived from the DNA constructs described
herein.
[0442] Where secretion of the variant protein is desired, which is
difficult to achieve with multi-transmembrane domain containing
proteins such as G-protein-coupled receptors (GPCRs), appropriate
secretion signals can be incorporated into the vector. The signal
sequence can be endogenous to the peptides or heterologous to these
peptides.
[0443] Where the variant protein is not secreted into the medium,
the protein can be isolated from the host cell by standard
disruption procedures, including freeze/thaw, sonication,
mechanical disruption, use of lysing agents, and the like. The
variant protein can then be recovered and purified by well-known
purification methods including, for example, ammonium sulfate
precipitation, acid extraction, anion or cationic exchange
chromatography, phosphocellulose chromatography,
hydrophobic-interaction chromatography, affinity chromatography,
hydroxylapatite chromatography, lectin chromatography, or high
performance liquid chromatography.
[0444] It is also understood that, depending upon the host cell in
which recombinant production of the variant proteins described
herein occurs, they can have various glycosylation patterns, or may
be non-glycosylated, as when produced in bacteria. In addition, the
variant proteins may include an initial modified methionine in some
cases as a result of a host-mediated process.
[0445] For further information regarding vectors and host cells,
see Current Protocols in Molecular Biology, John Wiley & Sons,
N.Y.
[0446] Uses of Vectors and Host Cells, and Transgenic Animals
[0447] Recombinant host cells that express the variant proteins
described herein have a variety of uses. For example, the cells are
useful for producing a variant protein that can be further purified
into a preparation of desired amounts of the variant protein or
fragments thereof. Thus, host cells containing expression vectors
are useful for variant protein production.
[0448] Host cells are also useful for conducting cell-based assays
involving the variant protein or variant protein fragments, such as
those described above as well as other formats known in the art.
Thus, a recombinant host cell expressing a variant protein is
useful for assaying compounds that stimulate or inhibit variant
protein function. Such an ability of a compound to modulate variant
protein function may not be apparent from assays of the compound on
the native/wild-type protein, or from cell-free assays of the
compound. Recombinant host cells are also useful for assaying
functional alterations in the variant proteins as compared with a
known function.
[0449] Genetically-engineered host cells can be further used to
produce non-human transgenic animals. A transgenic animal is
preferably a non-human mammal, for example, a rodent, such as a rat
or mouse, in which one or more of the cells of the animal include a
transgene. A transgene is exogenous DNA containing a SNP of the
present invention which is integrated into the genome of a cell
from which a transgenic animal develops and which remains in the
genome of the mature animal in one or more of its cell types or
tissues. Such animals are useful for studying the function of a
variant protein in vivo, and identifying and evaluating modulators
of variant protein activity. Other examples of transgenic animals
include, but are not limited to, non-human primates, sheep, dogs,
cows, goats, chickens, and amphibians. Transgenic non-human mammals
such as cows and goats can be used to produce variant proteins
which can be secreted in the animal's milk and then recovered.
[0450] A transgenic animal can be produced by introducing a
SNP-containing nucleic acid molecule into the male pronuclei of a
fertilized oocyte, e.g., by microinjection or retroviral infection,
and allowing the oocyte to develop in a pseudopregnant female
foster animal. Any nucleic acid molecules that contain one or more
SNPs of the present invention can potentially be introduced as a
transgene into the genome of a non-human animal.
[0451] Any of the regulatory or other sequences useful in
expression vectors can form part of the transgenic sequence. This
includes intronic sequences and polyadenylation signals, if not
already included. A tissue-specific regulatory sequence(s) can be
operably linked to the transgene to direct expression of the
variant protein in particular cells or tissues.
[0452] Methods for generating transgenic animals via embryo
manipulation and microinjection, particularly animals such as mice,
have become conventional in the art and are described, for example,
in U.S. Pat. Nos. 4,736,866 and 4,870,009, both by Leder et al.;
U.S. Pat. No. 4,873,191 by Wagner et al., and in B. Hogan,
Manipulating the Mouse Embryo, Cold Spring Harbor Laboratory Press,
N.Y. (1986). Similar methods are used for production of other
transgenic animals. A transgenic founder animal can be identified
based upon the presence of the transgene in its genome and/or
expression of transgenic mRNA in tissues or cells of the animals. A
transgenic founder animal can then be used to breed additional
animals carrying the transgene. Moreover, transgenic animals
carrying a transgene can further be bred to other transgenic
animals carrying other transgenes. A transgenic animal also
includes a non-human animal in which the entire animal or tissues
in the animal have been produced using the homologously recombinant
host cells described herein.
[0453] In another embodiment, transgenic non-human animals can be
produced which contain selected systems that allow for regulated
expression of the transgene. One example of such a system is the
cre/loxP recombinase system of bacteriophage P1. Lakso et al., PNAS
89:6232-6236 (1992). Another example of a recombinase system is the
FLP recombinase system of S. cerevisiae. O'Gorman et al., Science
251:1351-1355 (1991). If a cre/loxP recombinase system is used to
regulate expression of the transgene, animals containing transgenes
encoding both the Cre recombinase and a selected protein are
generally needed. Such animals can be provided through the
construction of "double" transgenic animals, e.g., by mating two
transgenic animals, one containing a transgene encoding a selected
variant protein and the other containing a transgene encoding a
recombinase.
[0454] Clones of the non-human transgenic animals described herein
can also be produced according to the methods described, for
example, in I. Wilmut et al., Nature 385:810-813 (1997) and PCT
International Publication Nos. WO 97/07668 and WO 97/07669. In
brief, a cell (e.g., a somatic cell) from the transgenic animal can
be isolated and induced to exit the growth cycle and enter G.sub.o
phase. The quiescent cell can then be fused, e.g., through the use
of electrical pulses, to an enucleated oocyte from an animal of the
same species from which the quiescent cell is isolated. The
reconstructed oocyte is then cultured such that it develops to
morula or blastocyst and then transferred to pseudopregnant female
foster animal. The offspring born of this female foster animal will
be a clone of the animal from which the cell (e.g., a somatic cell)
is isolated.
[0455] Transgenic animals containing recombinant cells that express
the variant proteins described herein are useful for conducting the
assays described herein in an in vivo context. Accordingly, the
various physiological factors that are present in vivo and that
could influence ligand or substrate binding, variant protein
activation, signal transduction, or other processes or
interactions, may not be evident from in vitro cell-free or
cell-based assays. Thus, non-human transgenic animals of the
present invention may be used to assay in vivo variant protein
function as well as the activities of a therapeutic agent or
compound that modulates variant protein function/activity or
expression. Such animals are also suitable for assessing the
effects of null mutations (i.e., mutations that substantially or
completely eliminate one or more variant protein functions).
[0456] For further information regarding transgenic animals, see
Houdebine, "Antibody manufacture in transgenic animals and
comparisons with other systems," Curr Opin Biotechnol 13(6):625-9
(December 2002); Petters et al., "Transgenic animals as models for
human disease," Transgenic Res 9(4-5):347-51, discussion 345-6
(2000); Wolf et al., "Use of transgenic animals in understanding
molecular mechanisms of toxicity," J Pharm Pharmacol 50(6):567-74
(June 1998); Echelard, "Recombinant protein production in
transgenic animals," Curr Opin Biotechnol 7(5):536-40 (October
1996); Houdebine, "Transgenic animal bioreactors," Transgenic Res
9(4-5):305-20 (2000); Pirity et al., "Embryonic stem cells,
creating transgenic animals," Methods Cell Biol 57:279-93 (1998);
and Robl et al., "Artificial chromosome vectors and expression of
complex proteins in transgenic animals," Theriogenology
59(1):107-13 (January 2003).
EXAMPLES
[0457] The following examples are offered to illustrate, but not
limit, the claimed invention.
Example 1
Analysis of SNPS associated with rheumatoid arthritis Overview
[0458] A multi-tiered, case-control association study was carried
out in which 25,966 putative functional SNPs were genotyped in 475
white North American RA patients and 475 matched controls.
Significant markers were genotyped in two additional, independent,
white case-control sample sets (661 cases/1322 controls from North
America and 596 cases/705 controls from The Netherlands). A SNP,
rs1953126, on chromosome 9q33.2 was identified that was
significantly associated with RA (OR.sub.common=1.28, trend
P.sub.comb=1.45E-06). Through a comprehensive fine-scale-mapping
SNP-selection procedure, 137 additional SNPs in a 668 kb region
from MEGF9 to STOM on 9q33.2 were chosen for follow-up genotyping
in a staged-approach. Significant single marker results
(P.sub.comb<0.01) spanned a large 525 kb region from FBXW2 to
GSN. However, a variety of analyses identified SNPs in a 70 kb
region extending from the 5' end of PHF19 across TRAF1 into the
TRAF1-05 intergenic region, but excluding the C5 coding region, as
the most significant (trend P.sub.comb: 1.45E-06.fwdarw.5.41E-09).
The observed association patterns for these SNPs had heightened
statistical significance and a higher degree of consistency across
sample sets. In addition, the allele frequencies for these SNPs
displayed reduced variability between control groups when compared
to other SNPs. Furthermore, in combination with the other two known
genetic risk factors, HLA-DRB1 and PTPN22, the variants reported
here generate more than a 45-fold RA-risk differential.
[0459] Thus, variants in the PHF19-TRAF1-05 region on chromosome
9q33.2 are disclosed herein that show strong and consistent
association across three independent RA case-control studies (1732
cases/2502 controls). Combining genetic information from HLA,
PTPN22 and TRAF1 variants, the posterior probability of RA was
calculated for every possible genotype combination. These variants
have utilities for such uses as individualized prognosis and
targeted medicine.
[0460] See Chang et al., "A large-scale rheumatoid arthritis
genetic study identifies association at chromosome 9q33.2", PLoS
Genet. 2008 Jun. 27; 4(6):e1000107, incorporated herein by
reference in its entirety.
[0461] Results
[0462] Identification of the RA-Associated Chr9q33.2-Region
[0463] Three sequential case-control studies were conducted to
identify SNPs associated with RA. In the first study, DNA samples
from white North Americans with (N=475 cases) and without (N=475
controls) RA (sample set 1, see Table 8 for a breakdown of the
clinical characteristics of each sample set) were genotyped for a
set of 25,966 gene-centric SNPs utilizing disease-phenotype-based
pooled DNA samples (pooled DNA samples were used to increase
genotyping throughput while minimizing DNA consumption). The allele
frequency of each SNP was determined in cases and controls as
described in the "Materials and Methods" section of Example 1 below
and 1438 SNPs were significantly associated with RA using an
allelic test (P<0.05); 88 of these SNPs mapped to chr 6p21
between HLA-F and HLA-DPB1 within the major histocompatibility
complex (MHC). Of the 1350 non-MHC SNPs, 1306 were evaluated in a
second independent white North American sample set (661 cases and
1322 controls) by use of a similar pooling strategy (44 SNPs were
not genotyped due to insufficient primer quantities). Eighty-nine
statistically compelling SNPs (P.sub.allelic<0.05) with the same
risk allele in these two sample sets were then individually
genotyped in sample set 1 to verify the results from the pooled DNA
phase of the experiment; 55 SNPs retained statistical significance
(P.sub.allelic<0.05) and 44 have been individually genotyped in
sample set 2. Twenty-eight of these were significant
(P.sub.allelic<0.05) and are currently being evaluated in a
third independent white Dutch sample set (596 cases and 705
controls).
[0464] The most significant non-MHC SNP to emerge from a combined
analysis of sample sets 1 and 2 after the PTPN22 missense SNP,
rs2476601 [9], was rs1953126, which is an intergenic SNP located 1
kb upstream of the human homologue to the Drosophila polycomblike
protein-encoding gene, PHF19, on chr 9q33.2 near two candidate
genes, TRAF1 and C5 (individual genotyping: Sample Set 1: OR=1.30,
95% CI 1.08-1.58, trend P=0.007; Sample Set 2: OR=1.35, 95% CI
1.18-1.56, trend P=1.69E-05). This SNP was also genotyped in sample
set 3 (association: OR=1.16, 95% CI 0.99-1.36, trend P=0.066)
(Tables 5-7). No significant deviations from Hardy-Weinberg
equilibrium were observed for the genotypes of this SNP in the
cases or controls in the three sample sets. The frequency of the
minor allele was approximately 30.8% in white North American
controls and increasing to 37.3% in white North American cases, and
34.9% in Dutch controls and increasing to 38.3% in Dutch cases. A
combined analysis across all three sample sets was highly
significant (OR=1.28, 95% CI 1.16-1.40, trend
P.sub.comb=1.45E-06).
[0465] Chr 9q33.2 Fine-Mapping and LD Analyses
[0466] To further explore the association signal in this region,
patterns of LD from the CEU HapMap data [36] were used to define a
broad 668 kb region, extending from MEGF9 to STOM on chr9q33.2, for
follow-up individual genotyping. Postulating two different disease
models, one where the originally identified SNP, rs1953126, was in
LD with one or more causative SNPs and a second model of allelic
heterogeneity where several alleles at a locus independently
predispose individuals to disease, a combination of 137 LD and
tagging SNPs were selected from this region for follow-up
genotyping in Sample Set 1 (a detailed description of SNP selection
is outlined in the "Materials and Methods" section of Example 1
below). Only four SNPs, all in the RAB14-GSN-STOM region, were
mildly out of Hardy-Weinberg equilibrium (10.sup.-4<P<0.01)
in the controls (Tables 5-7). Including the original SNP,
rs1953126, 38 of the 138 chr9q33.2-region SNPs genotyped in Sample
Set 1 were significant at the 0.01 level.
[0467] To better understand these positive signals and select a
subset of informative SNPs for genotyping in the other sample sets,
the LD architecture around rs1953126 was investigated by
calculating pairwise r.sup.2 values for all 138 SNPs genotyped in
Sample Set 1. Evaluating cases and controls separately revealed
very similar LD patterns between both groups across this region.
There were two primary haplotype blocks (LD Block 1 and LD Block 2)
(here an LD block is defined as a region in which over 75% of all
pairwise r.sup.2 LD correlation values exceeded 0.3), with moderate
LD between pairs of SNPs residing within each of the two blocks. LD
Block 1, which contains the original SNP, rs1953126, and is
approximately 70 kb, extends from rs10985070, an intronic SNP in
the 5' end of PHF19, across TRAF1 into the TRAF1-05 intergenic
region to rs2900180. Approximately 214 kb in length, LD Block 2
ranges from the middle of C5 to the RAB14-GSN intergenic region.
Given that haplotype block structures can have complex LD patterns
within and between blocks and that a single associated SNP in this
region (rs1953126) was focused on, a higher resolution plot was
generated (not shown) where pairwise r.sup.2 values were calculated
for rs1953126 and each of the remaining 137 SNPs, which revealed
groups of highly correlated SNPs not readily visible in the LD
heat-map.
[0468] Integrating the Sample Set 1 association results with the LD
measures, it was found that the original SNP, rs1953126, was highly
correlated (r.sup.2>0.95) with 17 other SNPs in LD Block 1.
These 17 other "Group 1" SNPs in LD Block 1 (in addition to
rs1953126) are as follows: rs1609810, rs7034390, rs2270231,
rs881375, rs6478486, rs1860824, rs10435844, rs2239657, rs2239658,
rs2416805, rs876445, rs7021206, rs1014529, rs1930781, rs2416806,
rs7864019, and rs2900180 (additionally, the following SNPs, all of
which lie in LD Block 1 between rs10985070 and rs2900180, were not
genotyped but highly correlated (r.sup.2>0.90) with Group 1 SNPs
in the CEU HapMap data: rs1930778, rs10760121, rs1468671,
rs7046108, rs10435843, rs758959, rs2109895, rs1930780, rs10739580,
rs10733648, and rs7039505). These 18 SNPs (the 17 SNPs above plus
rs1953126) have similar association results increasing in frequency
from approximately 30-31% in controls to 36-37% in cases
(OR=1.29-1.35, trend P-0.002-0.009) (Tables 5-7). It was observed
that 20 non-Group 1 SNPs were associated with disease at equal or
greater significance including 14 other SNPs from LD Block 1.
Thirteen of these other LD Block 1 SNPs, which were highly
correlated with one another (r.sup.2>0.95) and reasonably
correlated with the Group 1 SNPs (r.sup.2=0.66-0.72), had minor
allele frequencies of approximately 38% in controls, increasing to
46% in cases (OR=1.34-1.39, trend P<0.002). These 13 "Group 2"
SNPs are as follows: rs10985070, rs10985073, rs10818482, rs2072438,
rs10760126, rs4836834, rs2416804, rs10118357, rs7021049, rs1930782,
rs3761846, rs10760130, and rs10818488 (additionally, the following
SNPs, all of which lie in LD Block 1 between rs10985070 and
rs2900180, were not genotyped but highly correlated
(r.sup.2>0.90) with Group 2 SNPs in the CEU HapMap data:
rs2269060, rs7037195, rs1014530, rs3761847, and rs10760129). The
fourteenth significant SNP in LD Block 1, rs7021880, a TRAF1
intronic SNP, was also highly significant (OR=1.43, trend
P=3.12E-04), increasing in frequency from 27.1% in controls to
34.7% in cases. This SNP was in LD with both the Group 1
(r.sup.2=0.82-0.90) and the Group 2 SNPs (r.sup.2=0.59-0.64) SNPs.
The six other SNPs with P values <0.01 lie upstream of LD Block
1 (n=4) or downstream of LD Block 2 in GSN (n=2) (Tables 5-7). The
PSMD5 intronic SNP, rs10760117, was particularly significant among
these six SNPs.
[0469] Given the association results and the LD structure, 72 of
the 137 fine-scale mapping SNPs were selected to genotype in Sample
Set 2 (661 white North American RA patients and 1322 matched white
North American controls) (Tables 5-7). This subset of fine-scale
mapping SNPs was chosen to reduce the genotyping load, while
capturing the association signals and retaining full coverage of
the genetic variation in this region. Two of these 72 SNPs,
rs12683062 (in CEP110) in the cases and rs9409230 (a RAB14-GSN
intergenic SNP) in the controls, were moderately out of
Hardy-Weinberg equilibrium (P=2.56E-04 and P=0.003, respectively;
Tables 5-7). Including the original SNP, rs1953126, 23 of these 72
SNPs were significant (trend P<0.01) in Sample Set 2; however,
the nine significant LD Block 1 SNPs in Sample Set 1 were the most
significant, replicated SNPs in Sample Set 2. There were three SNPs
in GSN (rs10985196, rs7046030 and rs12683459), all highly
correlated with pairwise r.sup.2 values >0.90, which were highly
significant (trend P<10.sup.-6) in Sample Set 2 (Sample Set 1:
trend P=0.01-0.05).
[0470] Forty-two SNPs were genotyped in Sample Set 3 (596 white
Dutch RA patients and 705 white Dutch controls); none of these SNPs
rejected HWE at the P<0.01 significance level (Tables 5-7).
These 42 SNPs span over 600 kb and were selected to cover genetic
variability, association patterns and gene boundaries. Four of the
42 SNPs, spanning 286 kb from TRAF1 to RAB14, were significant at
the 0.01 level. Of these four, two SNPs (rs4836834 and rs7021049)
were members of Group 2 from LD Block 1, perfectly correlated
(r.sup.2=1), and both SNPs were highly significant in all three
sample sets. The six Group 1 SNPs genotyped in Sample Set 3 were
close to the 0.05 significance level, with the most significant of
these being the synonymous P340P TRAF1 SNP, rs2239657 and the
TRAF1-05 intergenic SNP, rs2900180 (trend P=0.052) (Tables 5-7)
(for the TRAF1 intronic SNP, rs7021880, trend P=0.102 in this
sample set).
[0471] In a combined analysis of the 43 SNPs genotyped in all three
sample sets, including the original SNP, rs1953126, 20 SNPs,
spanning a region of over 525 kb from rs7026635 within FBXW2 to
rs10818527 within GSN, were significantly associated with RA (trend
P.sub.comb<0.01) (Table 9). Several of these SNPs exhibited
consistent and strong association across all three sample sets
(Tables 5-7). Using either a combined trend or genotypic P-value,
the top-ranked five SNPs were: rs6478486, rs4836834, rs2239657,
rs7021880 and rs7021049 (listed in order of position). All reside
within or near TRAF1 in LD Block 1, had common odds ratios of
approximately 1.3, and were highly significant (trend
P.sub.comb<1.5E-07) (Table 9).
[0472] Multiple Testing
[0473] Since false-positive results can be problematic in any
large-scale experiment in which modest nominal significance levels
are used, the results from the combined analysis were corrected for
multiple testing using the method of Dunn-Sidak [37]. Seven SNPS,
all within LD Block 1, survived a Dunn-Sidak correction for 25,966
SNPs at P<0.01. The corrected trend P.sub.comb values for the
five most significant SNPs were: 0.003 for rs6478486 and 0.004 for
rs223957 (Group 1), 0.002 for rs4836834 and 0.001 for rs7021049
(Group 2), and 1.4E-04 for rs7021880.
[0474] Haplotype Sliding Window
[0475] Given that the fine-scale-mapping SNPs cluster into various
groups based on their pairwise r.sup.2 values and that under many
models haplotypes can be more informative than single-markers [38],
the Haplo-Stats package [39] was used to run a 5-SNP sliding-window
haplotype association analysis on the 43 SNPs genotyped in all
three sample sets separately for each sample set and then the
statistical evidence was combined across all three sample sets. The
combined analysis revealed a 29 kb-wide maximum peak of global
association for haplotypes comprised of alleles segregating at
rs6478486-rs4836834-rs2239657-rs7021880-rs7021049 in LD Block 1
(P.sub.comb=4.15E-08). This region ranges from 9 kb downstream of
TRAF1 in the PHF19-TRAF1 intergenic region to intron 3 within
TRAF1. The disease association evidence for this PHF19-TRAF1 region
was particularly strong. Aside from this peak and a second highly
significant peak in the TRAF1 region (P.sub.comb=5.45E-08;
rs2239657-rs7021880-rs7021049-rs2900180-rs2269066), a second region
of significance was centered over the RAB14-GSN region
(P=2.11E-06).
[0476] Haplotype Analyses of LD Block 1 Variants
[0477] The single marker and sliding window haplotype analyses
pointed to LD Block 1 as harboring RA-associated SNPs. The TRAF1
intronic SNP, rs7021880, was the most significant SNP in Sample
Sets 1 (trend P=3.12E-04) and 2 (trend P=5.09E-07) and in the
combined analysis (trend P.sub.comb=5.41E-09) (in the Dutch sample
set, trend P=0.102). In the Dutch sample set, the Group 2 SNPs,
rs4836834 and rs7021049, were the most significant (trend P=0.004
and 0.006, respectively) (Tables 5-7 and 9). These Group 2 SNPs
ranked second in significance in Sample Set 1 and in the combined
analysis while in Sample Set 2 they ranked third behind rs7021880
and the Group 1 SNPs.
[0478] Given these results, the haplotype structure of LD Block 1
was analyzed using a subset of the nine SNPs from this region
genotyped in all three studies. Taking into account the LD
structure, the following three SNPs were selected for these
analyses: rs2239657, the P340P TRAF1 synonymous polymorphism (to
represent the six Group 1 SNPs); rs7021049, a TRAF1 intronic SNP
(to represent the two Group 2 SNPs); and rs7021880. Haplotype
frequencies for these three SNPs were estimated using the
Haplo.Stats package [39], revealing the same four common haplotypes
in each study (Table 10). Two of these haplotypes, AGT and GCG,
were strongly associated with disease (P.sub.comb=3.08E-08 and
8.00E-09, respectively), with the former being
protective--decreasing in frequency from .about.60.9% in North
American controls to 53.8% in North American cases and 56.7% in
Dutch controls to 51.2% in Dutch cases (OR.sub.common=0.76, 95% CI
0.70-0.83); and the latter being susceptible--increasing from 27.0%
in North American controls to 34.7% in North American cases and
from 33.2% in Dutch controls to 36.0% in Dutch cases
(OR.sub.common=1.32, 95% CI 1.211.45). These haplotype
P.sub.comb-values were not significantly different from those
calculated for the individual SNPs (Table 9).
[0479] Dosage Effects
[0480] To explore the effect of the number of copies of each
haplotype at these three sites (rs2239657, rs7021880 and rs7021049)
along with any dominant/recessive effects between haplotypes,
diplotypes were estimated using the pseudo-Gibbs sampling algorithm
from the program SNPAnalyzer [40]. Analyzing the diplotypes
individually, two diplotype combinations achieved statistical
significance (P<0.01) when compared to all other diplotypes
(Table 11). The AGT/AGT diplotype was strongly associated with
protection against RA (P.sub.comb=5.35E-07; OR.sub.common=0.68, 95%
CI 0.59-0.78), whereas the less frequent GCG/GCG diplotype was
associated with predisposition (P.sub.comb=0.005;
OR.sub.common=1.42, 95% CI 1.16-1.75).
[0481] Assuming a disease prevalence of 1%, the relative risk of RA
was calculated in those individuals carrying two copies of the
protective AGT haplotype compared to those without the AGT
haplotype (RR.sub.2 copies AGT=0.77). This homozygous relative risk
was substantially reduced from the relative risk calculated from
individuals carrying only one copy of the AGT haplotype (RR.sub.1
copy AGT=1.06.). Similarly, the relative risks for the susceptible
GCG haplotype were estimated (RR.sub.2 copies GCG=1.38; RR.sub.1
copy GCG=1.15).
[0482] Genetic Background-Conditioned Results
[0483] A collection of 749 SNPs informative for European
substructure was used to stratify both the cases and controls in
Sample Set 2 [41]. By partitioning cases and controls into similar
genetic background groups ("Northern European" or "Other"), the aim
was to interrogate the data for strata-specific effects--that is,
whether or not association signals were specific to one of these
genetic background groups--and avoid potential confounding by
population stratification. Although two SNPs demonstrated
moderately higher significance levels following
stratification--rs16910233 in C5 (P.sub.North=0.019 compared to
P.sub.Unstrat=0.147) and rs12685539 in CEP110 (P.sub.Other=0.038
compared to P.sub.Unstrat=0.115), a Breslow-Day test of effect
heterogeneity comparing OR.sub.North and OR.sub.Other was not
significant. Furthermore, a positional plot of Mantel-Haenszel
P-values, testing for association given the genetic background
stratification, was very similar to the unadjusted plot (not shown)
suggesting that stratification of the case and control samples by
SNPs informative for European substructure did not change the
association patterns in Sample Set 2.
[0484] Rheumatoid Factor (RF)
[0485] Rheumatoid factor, a circulating antibody to immunoglobulin
G, is a key serum analyte used in diagnosis of RA as well as an aid
for the prognosis of RA-severity [2]. As the R620W missense
polymorphism in PTPN22 appears to have stronger susceptibility
effects for RF-positive disease [9] and since RF is clinically
important, the role of RF status on the chr 9q33.2 association
patterns was investigated for the three LD Block 1 SNPs, rs2239657,
rs7021880 and rs7021049, testing for both strata-specific effects
as well as effect size differences between RF-positive and
RF-negative disease.
[0486] To explore the effect isolated to RF-positive patients
compared to controls, a strata-specific analysis was performed for
all sample sets using a genotypic test. The resulting combined
P-values for the RF-positive stratum were highly significant
(P.sub.rs2239657=4.02E-05, P.sub.rs7021880=7.10E-06,
P.sub.rs7021049=5.68E-06; Table 12), which were slightly less
significant when compared to the overall genotypic combined
P-values (Table 9). A similar analysis of RF-negative disease in
Sample Sets 2 and 3 yielded genotypic combined P-values of
P.sub.rs7021880=0.013 and P.sub.rs2239657=0.038,
P.sub.rs7021049=0.082. Allelic odds ratios and 95% confidence
intervals were also calculated for each individual sample set and
the results did not demonstrate a clear pattern of strata-specific
effects within a stratum or differential effects between the two
strata (Table 12). A Breslow-Day test was performed on Sample Set 2
(individually matched cases and controls) to formalize the test of
homogeneity of odds ratios, showing that none of the three SNPs
exhibited significant differential effects (Table 12). Similarly,
results for the analogous Monte Carlo-based test performed in
Sample Set 3 (where cases and controls were not individually
matched) also did not reveal significant heterogeneity between
RF-positive and RF-negative effects.
[0487] Logistic Regression
[0488] Logistic regression was used to further dissect association
signals from LD patterns, build predictive models, and explore the
relative effects of each SNP within the models constructed. To
accomplish this, the number of SNPs for these analyses was first
minimized by calculating pairwise r.sup.2 values for the 43 SNPs
genotyped in all three sample sets, and the SNPs were divided into
distinct groups based on their LD structure. SNPs with pairwise
r.sup.2 values >0.90 were grouped together, resulting in 27
distinct groups (Table 13) and then the single most significant SNP
from each group (P.sub.comb from Table 9) was chosen for the
logistic regression analyses.
[0489] In the univariate analysis, the TRAF1 intronic SNP
rs7021049, which marks the Group 2 SNPs in LD Block 1, was the most
significant SNP(P=1.24E-06), followed by rs7021880 (1.39E-06), and
then the Group 1 SNP, rs2239657 (P=2.52E-06) (Table 13). In
addition, 11 other SNPs were significant (P<0.01). To assess
whether other observed associations in the region were primarily a
result of LD with the most significant SNP, pairwise logistic
regression was performed on all 27 SNPs, adjusting for rs7021049.
One SNP retained statistical significance (P<0.01): rs10985196
(Group 21), a GSN intronic SNP(P=0.001). To test whether the
combination of Group 2 and Group 21 variants fully accounted for
the association with RA, the logistic regression was repeated,
adjusting for both rs7021049 and rs10985196; none of the remaining
groups of SNPs were significantly associated with RA.
[0490] To explore more complex models, both forwards and backwards
stepwise logistic regression procedures were used separately on the
same 27 SNPs in each individual sample set as well as in a combined
analysis of all three sample sets (Table 14). The forward model for
the combined samples, which included two SNPs, rs7021049 (the Group
2 TRAF1 intronic SNP) and rs10985196 (the GSN intronic SNP), was
consistent with the results of the pairwise logistic regression
analysis presented above.
[0491] Multi-Locus RA Risk Calculations
[0492] The risk of RA given genotypes at the three loci HLA-DRB1,
PTPN22 and the TRAF1 region was estimated under three different
possible unconditional RA risk assumptions (i.e., RA disease
prevalence values) using Bayes' theorem. In total, there were 18
multi-locus genotype combinations, and RA risk was calculated for
each combination using data from Sample Set 1 as described in the
"Materials and Methods" section of Example 1 below. Assuming a 1%
RA prevalence, similar to that observed in the white North American
general population, the results indicate that individuals with the
protective genotype at all three loci (OSE for HLA-DRB1, CC
genotype for PTPN22 and the AGT/AGT TRAF1 diplotype) have a
substantially reduced predicted risk of RA (0.29% vs. 1%), whereas
those individuals in the highest-risk category (HLA-25E, TT or TC
genotype at PTPN22, and the GCG/GCG TRAF1 diplotype), have an
estimated RA risk of 13.06%, representing more than a 45-fold
increase in risk. These data are presented as a 3-D plot in FIG. 1
where the lowest risk value has been reset to 1 and the other
values normalized accordingly. Approximately 19% of the general
population will find themselves in the low-risk multi-locus
genotype category and only 0.06% in the high risk group. In
contrast, when the disease prevalence is increased to 30%, as might
be observed in high-risk groups such as an early arthritis clinic,
the range of risk drops to 7.88-fold, with the posterior
probability of RA calculated to be 11% for the lowest-risk genotype
combination and increasing to 86.4% in the highest risk category
(Table 15).
[0493] Discussion
[0494] A large-scale, multi-tiered association study of RA was
carried out using a panel of putative functional SNPs, particularly
focuses on variants in the chromosome 9q33.2 region. In particular,
three groups of SNPs, represented by rs2239657 (Group 1), rs7021049
(Group 2) and rs7021880 were highly significant and showed a
localized effect to a 70 kb region extending from rs10985070, in
intron 3 of PHF19, across TRAF1 to rs2900180 in the TRAF1-05
intergenic region, but excluding the C5 coding region (LD Block 1).
Examination of the CEU HapMap data identified 16 additional SNPs
(rs1930778, rs10760121, rs1468671, rs7046108, rs10435843, rs758959,
rs2109895, rs1930780, rs10739580, rs10733648, rs7039505, rs2269060,
rs7037195, rs1014530, rs3761847, rs10760129) that were highly
correlated (r.sup.2>0.95) with either the Group 1 or Group 2
SNPs genotyped in this study, and all 16 fall within this 70 kb
region. Across sample sets, the evidence for association at these
sites was stronger, maintaining statistical significance after
correction for multiple testing, and more consistent than sites in
neighboring regions. Additional analyses further buttressed the
statistical support for these conclusions: (i) a haplotype sliding
window analysis of all SNPs genotyped in the chr 9q33.2 region
demonstrated strong statistical evidence for the TRAF1-region
harboring RA risk variants (P.sub.comb=4.15E-08) and (ii) haplotype
analysis of SNPs within the 70 kb LD Block 1, identified a common
protective haplotype (P.sub.comb=3.08E-08) and a less frequent risk
haplotype (P.sub.comb=8.00E-09). The three representative SNPs
(rs2239657, rs7021049 and rs7021880) were strongly associated with
RF-positive disease and trended towards association in RF-negative
disease.
[0495] Logistic regression was used to tease apart association
signals from LD patterns. The pairwise analyses of the combined
datasets suggest there may be two independent statistical signals
of association to RA at chr 9q33.2--one in the TRAF1 region
represented by rs7021049 and one in the GSN region represented by
rs 10985196 (Table 13). Analyses of the individual sample sets
showed rs10985196 was independently associated with disease risk in
Sample Set 2 while rs7021049 shows consistent association across
all three sample sets (data not presented).
[0496] The original RA-associated, 9q33.2 SNP identified in the
genome-wide scan, rs1953126, is located within LD Block 1, 1 kb
upstream of the 5' end of PHF19, the human homologue of the
Drosophila polycomblike protein (PCL) gene. In Drosophila, the
protein encoded by this gene is part of the 1MDa extra sex combs
and enhancer of zeste [ESC-E(Z)] complex which is thought to
mediate transcriptional repression by modulating the chromatin
environment of many developmental regulatory genes such as homeobox
genes. In humans, this gene encodes two nuclear proteins that
appear to be upregulated in multiple cancers, and preliminary
evidence suggests that deregulation of these genes may play a role
in tumor progression [49].
[0497] TRAF1 encodes a protein that is a member of the TNF receptor
(TNFR) associated factor (TRAF) protein family that associates
with, and mediates, signal transduction from various receptors
including a subset of the TNFR superfamily. There are six members
of this family of adaptor proteins; however, TRAF1 is unique in
that while it contains the hallmark carboxyl-terminal TRAF domain,
it has a single zinc finger in the amino-terminal part, and the
N-terminal RING finger domain (required for NF-.kappa.B activation)
is missing. TRAF1 appears to have both anti-apoptotic and
anti-proliferative effects [50,51]. In addition, this protein has
been found to be elevated in malignancies of the B cell lineage
[52-57]. This observation is interesting given that the risk of
lymphoma, particularly diffuse large B cell lymphomas, appears to
be increased in the subset of RA patients with very severe disease,
independent of treatment [58,59]. It is clear that TRAF1 plays an
important role in immune cell homeostasis, making it an excellent
candidate gene for RA. Further, in vitro work suggests that
TNF.alpha.-mediated synovial hyperplasia, a major pathophysiologic
feature of RA, may be correlated with upregulation of TRAF
molecules, particularly TRAF1 [60]. Given that TNF blockade has
proved a highly effective therapy for RA [61,62], and response to
TNF inhibitors among RA patients is known to vary, TRAF1 variants
can be useful for assessing (e.g., predicting) an individual's
response to TNF inhibitors as well as other drug treatments.
[0498] SNPs in LD Block 1 could differentially regulate the
expression of the C5 gene. C5 encodes a zymogen that is involved in
all three pathways of complement activation. Traditionally, the
complement system has been viewed as a central part of the innate
immune system in host defenses against invading pathogens and in
clearance of potentially damaging cell debris; however complement
activation has also recently been implicated in the pathogenesis of
many inflammatory and immunological diseases. Proteolytic cleavage
of C5 results in C5a (one the most potent inflammatory peptides)
and C5b (a component of the membrane attack complex (MAC) that can
cause lysis of cells and bacteria). Genetic studies in various
mouse models of RA, including collagen-induced arthritis (CIA) and
the K/BXN T cell receptor transgenic mouse model of inflammatory
arthritis, have provided evidence that C5 (or a variant in strong
LD) plays a role in disease [63-65]. Furthermore, anti-05
monoclonal antibody therapy can prevent and ameliorate disease in
both mouse models [66,67].
[0499] Thus, a region on chromosome 9q33.2, particularly variants
in TRAF1, is identified herein as being associated with risk for
RA. In addition to developing targeted therapies with knowledge of
predisposing variants underlying the onset of RA, the
identification of RA susceptibility alleles may encourage earlier
monitoring and provide an intervention avenue in advance of
significant joint erosion. The analysis disclosed herein of the
three known genetic risk factors (the chr 9q33.2 variants disclosed
herein, as well as HLA-SE and PTPN22) indicates a >45-fold
difference in RA risk depending on an individual's genotype at
these three loci. These genetic variants are useful for identifying
individuals at increased risk for developing RA, particularly
within families with a history of RA, and are also useful as drug
response markers, particularly for assessing differential response
to TNF inhibitors and other drugs.
[0500] Materials and Methods
[0501] Subjects and Samples
[0502] All RA cases included in this study were white and met the
1987 American College of Rheumatology diagnostic criteria for RA
[68]; informed written consent was obtained from every subject.
Sample Set 1, which consisted of 475 RA cases and 475
individually-matched controls, was collected by Genomics
Collaborative, Inc. All case samples were white North Americans of
European descent who where rheumatoid factor (RF) positive. Control
samples were healthy white individuals with no medical history of
RA, also of European descent. A single control was matched to each
case on the basis of sex, age (.+-.5 years), and self-reported
ethnic background. The 661 cases in Sample Set 2 were acquired from
the North American Rheumatoid Arthritis Consortium (NARAC) and
consisted of members from 661 white North American multiplex
families [33,69,70]. Both RF-positive and RF-negative patients were
included in this sample set. Controls for Sample Set 2 were
selected from 20,000 healthy individuals enrolled in the New York
Cancer Project [71], a population-based prospective study of the
genetic and environmental factors that cause disease. Two control
individuals were matched to a single, randomly chosen affected
sibling from each NARAC family on the basis of sex, age (decade of
birth), and self-reported ethnic background. Sample Set 3 was
composed of 596 white RA patients from the Leiden University
Medical Center and 705 white controls from the same geographic
region in The Netherlands [72-74]. Both RF-positive and RF-negative
patients were included in this sample set. Table 8 displays the
clinical characteristics of all three sample sets and a detailed
description of samples that overlap with published studies of this
region [34,35].
[0503] Controls (which may also be referred to as "healthy" or
"normal" individuals), in addition to having no medical history of
RA, also were free of psoriasis, systemic lupus erythematosus,
ankylosing spondylitis, and Reiter syndrome, had rheumatoid factor
levels below 20 IU, and had no history of bone marrow
transplants.
[0504] Functional Genome-Wide Scan
[0505] The functional genome-wide scan included 25,966 gene-centric
SNPs curated from dbSNP, the Applera Genome Initiative [44,75], and
the literature. SNPs were included if they appeared in more than
one database and had a minor-allele frequency >1%. Approximately
70% of the SNPs were annotated as missense polymorphisms. The
majority of the remaining SNPs were either located within putative
transcription-factor site motifs or within acceptor/donor splice
site regions or were nonsense polymorphisms.
[0506] Genotyping
[0507] Allele-specific, real-time quantitative PCR [76] was used to
amplify 3 ng of pooled DNAs and infer SNP allele frequencies as
previously detailed [44]. Individual genotyping on SNPs was
performed on 0.3 ng of DNA using a similar protocol. Blinded to
case-control status, custom-made in-house software was used to call
genotypes, followed by hand-curation. Individual genotyping
accuracy has been estimated to be >99.8% by comparison with an
independent method. HLA-DRB1 genotyping was performed using
sequence-specific oligonucleotide probes as previously described
[9]. Shared epitope (SE) status [77] was determined from the probe
hybridization patterns. For this study, DRB1 alleles positive for
the SE include: 0101, 0102, 0401, 0404, 0405, 0408 and 1001.
[0508] Fine-Scale Mapping SNP Selection
[0509] To identify SNPs for inclusion in fine-scale mapping of the
9q33.2 region, two different disease models were postulated: 1) a
model where the originally identified SNP is in linkage
disequilibrium with one or more causative SNPs and 2) a model of
allelic heterogeneity where several alleles at the locus
independently predispose individuals to RA. To address both of
these models, the region to be interrogated was first defined by
calculating pairwise linkage disequilibrium (r.sup.2) values
between the originally identified SNP 5' of PHF19, rs1953126, and
all HapMap-genotyped SNPs within 500 kb flanking either side for
the CEPH samples (Utah residents with ancestry from northern and
western Europe, or CEU individuals) [36]. With this information, a
broad region was defined spanning 668 kb, from MEGF9 (177 kb
upstream of rs1953126) to STOM (491 kb downstream of rs1953126),
for follow-up genotyping. SNPs within this region were partitioned
into those in moderate to high LD (r.sup.2>0.20) with rs1953126
to address the first model, and those in low LD (r.sup.2<0.20)
with rs1953126 to address the second model. The power-based SNP
selection program Redigo [78] was then used on the low LD set of
SNPs to identify a reduced number of SNPs (tagging SNP set) that
retained high power to detect association. Those SNPs in moderate
to high LD with the original SNP were reduced by selecting a subset
of representative SNPs of any groups exhibiting extremely high
inter-group LD (r.sup.2>0.98). Further, any putative functional
SNPs were automatically included in the fine-scale mapping effort
if high-quality genotyping assays could be constructed for them.
The resulting set of 137 SNPs was genotyped in Sample Set 1 and the
data analyzed. Additional removal of fine-scale mapping SNPs was
performed for evaluation in subsequent sample sets on the basis of
association results and refined LD patterns: a subset of 72 SNPs
were selected for genotyping in Sample Set 2 and 42 SNPs were
genotyped in Sample Set 3.
[0510] Statistical Analyses
[0511] The Cochran-Armitage trend test [79] was used to calculate
P-values for individual SNPs. A William's-corrected G-test [37] was
used to calculate P-values for genotypic association. P-values were
corrected for multiple testing using the method of Dunn-Sidak [37].
Odds ratios and confidence intervals were calculated according to
standard procedures. Hardy-Weinberg equilibrium testing was
accomplished through the exact test of Weir [80]. P-values were
combined across sample sets using the Fisher's combined P-value, or
omnibus procedure [81] Likewise, Mantel-Haenszel common odds ratios
[82] were calculated to combine data across sample sets. To avoid
the small-count limitations of asymptotic-derived confidence
intervals, a Monte Carlo simulation was written in XLISP-STAT to
calculate 95% confidence intervals on the Mantel-Haenszel common
odds ratios. 20,000 iterations of the Monte Carlo were typically
performed for these confidence intervals. The standard measure of
pairwise linkage disequilibrium (the r.sup.2 statistic from
estimated 2-site haplotypes) was used to characterize the genetic
architecture of the region. The program LDMAX with an EM algorithm
was used to perform the r.sup.2 calculation [83].
[0512] Genetic Analyses
[0513] Haplotype Analysis
[0514] Haplotypes were estimated from unphased genotype data and
evaluated for association with RA through the Haplo.Stats software
package [39]. A sliding window of haplotype association was
calculated using a window size of 5 SNPs. Global P-values
(calculated across all haplotypes within a window) and
haplotype-specific ORs and P-values were calculated. Additional
haplotype analyses were performed using a combination of the
Pseudo-Gibbs sampling algorithm in the program SNPAnalyzer [40] and
the Haplo.Stats package.
[0515] Genetic Background-Conditioned Analysis
[0516] A panel of 749 SNPs previously selected to be informative
for classifying individuals of European descent into Northern and
Southern geographical groups was applied to case and control
samples from the second sample set as described previously [41].
Applying this method, 367 cases and 525 controls from Sample Set 2
were placed into a northern European ancestry cluster. Each case or
control individual had a greater than 0.95 probability of belonging
to the northern European cluster. The remaining cases and controls
from this study were binned into an "Other" category. A Breslow-Day
analysis [84] was applied to the stratified data to test for
heterogeneity in ORs between the two groups for the 9q33.2-linked
SNPs studied here. To test for association conditioned on these
stratified data, a Mantel-Haenszel P-value was also calculated.
[0517] Subphenotype Analysis: Rheumatoid Factor
[0518] Rheumatoid Factor (RF) levels were measured in cases as
previously described [85,86]. To test for heterogeneity of effect
between RF-positive and RF-negative patients, two different methods
were used. In sample set 2, where case-control matching was part of
the study design, the Breslow-Day [84] test was used. Since
individual matching was not incorporated into Sample Set 3, a Monte
Carlo simulation was used to compare the effect size for
RF-positive patients versus all controls to the effect size for
RF-negative patients versus all controls. Similar to other tests of
homogeneity of odds ratios, a test statistic was constructed
measuring the departure between normalized odds ratios comparing
two groups (see equation 51 in the "Supporting Information" section
of Example 1 below) and a Monte Carlo simulation was run to account
for correlated odds ratios in the null distribution. Monte Carlo
P-values were calculated in the traditional manner.
[0519] Logistic Regression
[0520] Logistic regression models were performed to assess the
relative importance of 27 SNPs chosen as distinct representatives
of groups of SNPs with pairwise r.sup.2 values >0.90. First, a
logistic regression model for each unique pair of SNPs was
performed. These pairwise models assumed a multiplicative effect on
the risk of RA for each additional copy of an allele. The p-values
and odds ratios for the effect of each SNP when controlling for
each alternative SNP were examined visually to determine if any SNP
showed obvious patterns (attenuating the risk of each alternate SNP
and retaining risk when adjusted for each alternate SNP). These
types of patterns might be expected under a disease model of a
single functional SNP. For models in which both SNPs remained
strongly associated (p<0.01), additional models were performed
to determine if adding a third SNP significantly improved the
model. To examine multi-SNP relationships in a more automated
fashion, both a forward as well as a backward stepwise logistic
regression procedure was performed on each sample set individually
as well as on the combined sample sets. The stepwise models were
performed coding the genotypes with indicator variables and with a
significance level of 0.05 for the 2 degree of freedom score test
(for entry) or Wald test (for exit) on the effect of the SNP used
as a threshold for entry or exit from the model. Models applied to
the combined sample sets also forced sample set as a covariate in
the model. The final model from each procedure was also applied to
the other sample sets to assess consistency of the models across
sample sets. The p-value from the likelihood ratio test of the
global null hypothesis for each model is reported. All logistic
regression models were performed using SAS version 9.
[0521] Multi-locus RA Risk Calculations
[0522] Risk for RA given every possible 3-locus genotype
combination at the HLA-DRB1 shared epitope, the R620W SNP in
PTPN22, and 3-SNP TRAF1 diplotypes was calculated for sample set 1
using Bayes' theorem (see equations S2 and S3 in the "Supporting
Information" section of Example 1 below) assuming conditional
independence between loci (the commonly-used Naive Bayes model for
predictive modeling) and a range of RA prevalence values (1%, 10%
and 30%). Theoretical calculations (not shown) demonstrate that
unless both sample sizes and epistatic effects are very large,
probability estimates of the jointly-occurring genotypes have lower
error rates assuming conditional independence between loci.
Therefore, fully-factorizing the probability of multi-locus
genotypes (using the conditional independence assumption) is
warranted under a broad range of the parameter space. By estimating
the posterior probability of RA for every possible multi-locus
genotype combination, accurate individual-based prognosis is
possible. Confidence intervals on the relative risk estimates were
obtained through simulation. Due to the selection of loci for
inclusion in the model, some overfitting may be present.
[0523] Supporting Information
[0524] Rheumatoid Factor Analysis
[0525] Investigating the effect heterogeneity between two case
groups, RF-positive and RF-negative disease, with the same group of
controls, a Monte Carlo procedure was devised using a simple test
statistic to measure the normalized departure between two odds
ratios. As the correlated nature of the two odds ratios were
automatically incorporated into the Monte Carlo simulation, the
appropriate null distribution of this test statistic was obtained
without complicated analytic techniques. The test statistic
constructed was
T = ( ln OR 1 1 x 1 + 1 x 2 + 1 z 1 + 1 z 2 - ln OR 2 1 y 1 + 1 y 2
+ 1 z 1 + 1 z 2 ) 2 ; ( eqn S1 ) ##EQU00009##
where OR.sub.1 is the allelic odds ratio comparing RF-positive
cases to the control group; OR.sub.2 is the allelic odds ratio
comparing RF-negative cases to the control group; and x.sub.1 and
x.sub.2 are the allelic counts for the A.sub.1 allele and A.sub.2
allele in the RF-positive case group, respectively. Using similar
notation, y.sub.1 and y.sub.2 are the allelic counts in RF-negative
cases, and Z.sub.1 and Z.sub.2 are the allelic counts in the
control group.
[0526] Multilocus RA Risk Calculations
[0527] The probability of RA given the genotypes at the three
predisposing loci is
P ( RA | G HLA , G PTPN 22 , G TRAF 1 ) = P ( G HLA , G PTPN 22 , G
TRAF 1 | RA ) P ( RA ) P ( G HLA , G PTPN 22 , G TRAF 1 ) ( eqn S2
) ##EQU00010##
Assuming conditional independence, one can fully factorize
.apprxeq. P ( RA ) P ( G | RA ) P ( RA ) P ( G | RA ) + [ 1 - P (
RA ) ] P ( G | CT ) ( eqn S3 ) ##EQU00011##
where P(RA) is the probability of RA, and where P(G|RA) and P(G|CT)
are the probabilities of a genotype in RA patients and controls,
respectively.
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Example 2
Linkage Disequilibrium (LD) SNPs Associated with Autoimmune
Disease, Particularly Rheumatoid Arthritis
[0614] Another investigation was conducted to identify additional
SNPs that are calculated to be in linkage disequilibrium (LD) with
certain "interrogated SNPs" that have been found to be associated
with autoimmune disease, particularly RA, as described herein and
shown in the tables. The interrogated SNPs are shown in column 1
(which indicates the hCV identification numbers of each
interrogated SNP) and column 2 (which indicates the public rs
identification numbers of each interrogated SNP) of Table 4. The
methodology is described earlier in the instant application. To
summarize briefly, the power threshold (7) was set at an
appropriate level, such as 51%, for detecting disease association
using LD markers. This power threshold is based on equation (31)
above, which incorporates allele frequency data from previous
disease association studies, the predicted error rate for not
detecting truly disease-associated markers, and a significance
level of 0.05. Using this power calculation and the sample size, a
threshold level of LD, or r.sup.2 value, was derived for each
interrogated SNP (r.sub.T.sup.2, equations (32) and (33) above).
The threshold r.sub.T.sup.2 value is the minimum value of linkage
disequilibrium between the interrogated SNP and its LD SNPs
possible such that the non-interrogated SNP still retains a power
greater or equal to T for detecting disease association.
[0615] Based on the above methodology, LD SNPs were found for the
interrogated SNPs. Several exemplary LD SNPs for the interrogated
SNPs are listed in Table 4; each LD SNP is associated with its
respective interrogated SNP. Also shown are the public SNP IDs (rs
numbers) for the interrogated and LD SNPs, when available, and the
threshold r.sup.2 value and the power used to determine this, and
the r.sup.2 value of linkage disequilibrium between the
interrogated SNP and its corresponding LD SNP. As an example in
Table 4, the interrogated SNP rs10435844 (hCV11266229) was
calculated to be in LD with rs10760121 (hCV11266268) at an r.sup.2
value of 0.9666, based on a 51% power calculation, thus
establishing the latter SNP as a marker associated with autoimmune
disease as well.
[0616] In general, the threshold r.sub.T.sup.2 value can be set
such that one with ordinary skill in the art would consider that
any two SNPs having an r.sup.2 value greater than or equal to the
threshold r.sub.T.sup.2 value would be in sufficient LD with each
other such that either SNP is useful for the same utilities, such
as determining an individual's risk for autoimmune disease such as
RA, for example. For example, in various embodiments, the threshold
r.sub.T.sup.2 value used to classify SNPs as being in sufficient LD
with an interrogated SNP (such that these LD SNPs can be used for
the same utilities as the interrogated SNP, for example) can be set
at, for example, 0.7, 0.75, 0.8, 0.85, 0.9, 0.95, 0.96, 0.97, 0.98,
0.99, 1, etc. (or any other r.sup.2 value in-between these values).
Threshold r.sub.T.sup.2 values may be utilized with or without
considering power or other calculations.
[0617] All publications and patents cited in this specification are
herein incorporated by reference in their entirety. Modifications
and variations of the described compositions, methods and systems
of the invention will be apparent to those skilled in the art
without departing from the scope and spirit of the invention.
Although the invention has been described in connection with
specific preferred embodiments and certain working examples, it
should be understood that the invention as claimed should not be
unduly limited to such specific embodiments. Indeed, various
modifications of the above-described modes for carrying out the
invention that are obvious to those skilled in the field of
molecular biology, genetics and related fields are intended to be
within the scope of the following claims.
TABLE-US-00002 TABLE 3 Primer 1 Primer 2 (Allele-specific
(Allele-specific Marker Alleles Primer) Primer) Common Primer
hCV11266229 G/T GCGGAGACTTCATCCTGATG GCGGAGACTTCATCCTGATT
CCGCTTTGGTCTGGATGTGA (SEQ ID NO: 585) (SEQ ID NO: 586) (SEQ ID NO:
587) hCV11720383 A/G TTCCTGACATGCCCCA TCCTGACATGCCCCG
TGTCCCCCTGCCTTGACTTAT (SEQ ID NO: 588) (SEQ ID NO: 589) (SEQ ID NO:
590) hCV11720386 A/G GCTTCCCAAAAGACTAATGCTA GCTTCCCAAAAGACTAATGCTG
GGATAATTTTGCCAGATCGCCTTCTA (SEQ ID NO: 591) (SEQ ID NO: 592) (SEQ
ID NO: 593) hCV11720394 A/T CCTCGGTCATCAATGCTTATAA
CCTCGGTCATCAATGCTTATAA CAGCACGAATTATTCCAGCTTTCTT TTA TTT TG (SEQ ID
NO: 594) (SEQ ID NO: 595) (SEQ ID NO: 596) hCV11720402 C/T
TGGGAAATTCAAGGCG CTGGGAAATTCAAGGCA TTTAAGTCCTGGGTAAACTAAATAGA (SEQ
ID NO: 597) (SEQ ID NO: 598) (SEQ ID NO: 599) hCV11720413 C/T
GAAAACAGCTTTACAGACAAGC AGAAAACAGCTTTACAGACAAGT
GGAAGCCACAGAAAGGCATCAG (SEQ ID NO: 600) (SEQ ID NO: 601) (SEQ ID
NO: 602) hCV11720414 A/G GCCCAATGAATAATAATCACAA
GCCCAATGAATAATAATCACAA AGCAATGCTGTGGAAGGAGAGATAT AAGTT AAGTC (SEQ
ID NO: 605) (SEQ ID NO: 603) (SEQ ID NO: 604) hCV11720421 A/G
AGAGAAGGTGTGTCCAACA GAGAAGGTGTGTCCAACG AGAGGTGAGCACTTCGCTCTATC (SEQ
ID NO: 606) (SEQ ID NO: 607) (SEQ ID NO: 608) hCV11840638 A/G
ACTCCGCAGGCATCAT ACTCCGCAGGCATCAC GGAAGCAAAGTGGAGTGTGAACAATA (SEQ
ID NO: 609) (SEQ ID NO: 610) (SEQ ID NO: 611) hCV1219005 A/G
CAAACCTGATCACTTTAGGGAA CAAACCTGATCACTTTAGGGAG GGAGAATGCGGCTCACACTC
(SEQ ID NO: 612) (SEQ ID NO: 613) (SEQ ID NO: 614) hCV1219006 C/G
GGGAAGTCTTTCTGGATTGTTG GGGAAGTCTTTCTGGATTGTTC
CCATAGCTGCTCTGAAGGGACTG (SEQ ID NO: 615) (SEQ ID NO: 616) (SEQ ID
NO: 617) hCV1434291 A/G CTTTCTGTCTTGCCCCAT CTTTCTGTCTTGCCCCAC
AGGATGGGCTAAGGAATTACTGAAAT (SEQ ID NO: 618) (SEQ ID NO: 619) ACC
(SEQ ID NO: 620) hCV1434292 A/C GCAGAGGAAATCCAGTTATCTT
GCAGAGGAAATCCAGTTATCTG CCGTTCCCCATCAGCTGATTTAC (SEQ ID NO: 621)
(SEQ ID NO: 622) (SEQ ID NO: 623) hCV1452636 A/G
GCCACACAATCTAGCAATTCT GCCACACAATCTAGCAATTCC
TCATGCACTGGTGGACACTTAGAT (SEQ ID NO: 624) (SEQ ID NO: 625) (SEQ ID
NO: 626) hCV1452662 A/C CCAAGGAGTCTACACTCTCAA CCAAGGAGTCTACACTCTCAC
GAGGTGGCATGCAAACACA (SEQ ID NO: 627) (SEQ ID NO: 628) (SEQ ID NO:
629) hCV15751719 A/G GGTTCTTTACTTGCTTCAGTTA GGTTCTTTACTTGCTTCAGTT
ATGTCCAGGGGATTCAAGAATGAGTA TTAT ATTAC (SEQ ID NO: 632) (SEQ ID NO:
630) (SEQ ID NO: 631) hCV15757738 A/T CCACCACTGGCCTATGAT
CCACCACTGGCCTATGAA GTAATGCTGCTTTACCTCAGCTAGAAC (SEQ ID NO: 633)
(SEQ ID NO: 634) (SEQ ID NO: 635) hCV15849105 A/G
GCCAGTCTTGGATTCATCTTAT CCAGTCTTGGATTCATCTTAT AGCGAGGCTCCGTCTCAA
ATACTA ATACTG (SEQ ID NO: 638) (SEQ ID NO: 636) (SEQ ID NO: 637)
hCV15849116 C/T TCAGCCTTAGAACAATGCTATG GTCAGCCTTAGAACAATGCTATA
GCTCTGCTCCCAAGATTTTCTGTT (SEQ ID NO: 639) (SEQ ID NO: 640) (SEQ ID
NO: 641) hCV15870898 C/T GGAGCTCCCCATTTTGG AGGAGCTCCCCATTTTGA
CCACTAGCCAGGCAGGATAAGAT (SEQ ID NO: 642) (SEQ ID NO: 643) (SEQ ID
NO: 644) hCV15875924 A/T ACTGCTCAGTGTCTTTCCAA ACTGCTCAGTGTCTTTCCAT
CCTGGGGAGCTCTGAGTGAT (SEQ ID NO: 645) (SEQ ID NO: 646) (SEQ ID NO:
647) hCV15875965 A/T CTTTTGCAAGTGAGGCATAGA TTTTGCAAGTGAGGCATAGT
GCTGCTCCGTGGAGTAACTC (SEQ ID NO: 648) (SEQ ID NO: 649) (SEQ ID NO:
650) hCV15974495 C/T ACAGAATGATGTAGCTGTCG TACAGAATGATGTAGCTGTCA
TCCTGCAGATCTGGAGAATC (SEQ ID NO: 651) (SEQ ID NO: 652) (SEQ ID NO:
653) hCV16077967 C/T AACACATTTGAGTGGGTACAC AAACACATTTGAGTGGGTACAT
CTGACACACCATCCTCATTGGTTTAG (SEQ ID NO: 654) (SEQ ID NO: 655) (SEQ
ID NO: 656) hCV16175379 A/G CCATACCTTGTTCCGGAAA CCATACCTTGTTCCGGAAG
AATGGAGATGGCACTGGAAAGAGA (SEQ ID NO: 657) (SEQ ID NO: 658) (SEQ ID
NO: 659) hCV16234785 C/T TGCCTCAAGTGCTTTACG GTGCCTCAAGTGCTTTACA
AACGTCAGCCTCAGTGACTACTTT (SEQ ID NO: 660) (SEQ ID NO: 661) (SEQ ID
NO: 662) hCV16234795 C/G CTTGGGAAAGTCATTAGTACAA
CTTGGGAAAGTCATTAGTACAA TCCTTCAAGGTAAGCATCTGAGTGT AC AG (SEQ ID NO:
665) (SEQ ID NO: 663) (SEQ ID NO: 664) hCV1632189 G/T
GGGAAATCTTGTTGGATAGTCTG GGGAAATCTTGTTGGATAGTCTT
GCAGCTCTCCTTGACTAGGAGTAAT (SEQ ID NO: 666) (SEQ ID NO: 667) (SEQ ID
NO: 668) hCV1632190 C/T TTCTGATGACTGATCAAACAGAC
TTCTGATGACTGATCAAACAGAT GCTGAGATTCAGTACTTCAAGTTTAA (SEQ ID NO: 669)
(SEQ ID NO: 670) CACAT (SEQ ID NO: 671) hCV1761888 C/T
TGCCCTTTATTTACATGACG GTGCCCTTTATTTACATGACA AAAAGGCAATTCACAAAAGAG
(SEQ ID NO: 672) (SEQ ID NO: 673) (SEQ ID NO: 674) hCV1761894 A/G
CCTATGGAGATATGAACTGGTA CCTATGGAGATATGAACTGGTA
ACGAGTGGAGTCATTGAATTGTAGCTA AAAT AAAC (SEQ ID NO: 677) (SEQ ID NO:
675) (SEQ ID NO: 676) hCV1917481 C/T TCTCAGTGCAAACTGTTCAAC
TCTCAGTGCAAACTGTTCAAT CCTTCAGTGCTTCCTCAAAGCTTAAT (SEQ ID NO: 678)
(SEQ ID NO: 679) (SEQ ID NO: 680) hCV22272061 C/G
GCTAATTGAAAGCTAATGATTC GCTAATTGAAAGCTAATGATTC
ATGGTGTTTCCCTGCCTCTGTA CTTG CTTC (SEQ ID NO: 683) (SEQ ID NO: 681)
(SEQ ID NO: 682) hCV22272588 G/T TTGAACCCCTGTCAAAGATG
CATATTGAACCCCTGTCAAAGA CCCACTATGATTGGTGTAGCTGTAGA (SEQ ID NO: 684)
TT (SEQ ID NO: 686) (SEQ ID NO: 685) hCV25473087 C/T
GACCAGTTGGTAGGAGGG TGACCAGTTGGTAGGAGGA CGTCACTCCAGATGGGAGATTAAG
(SEQ ID NO: 687) (SEQ ID NO: 688) (SEQ ID NO: 689) hCV25612709 A/G
CAGGTAAGAGATGTTGAAACTGT AGGTAAGAGATGTTGAAACTGC
GGGGAACCACTCAGGATTAGAGA (SEQ ID NO: 690) (SEQ ID NO: 691) (SEQ ID
NO: 692) hCV25751916 A/C ACAACCAGATTTGATCATCATC
CAACCAGATTTGATCATCATCAC TCTCCTCTGCTGCCTTCATTTCT AA (SEQ ID NO: 694)
(SEQ ID NO: 695) (SEQ ID NO: 693) hCV25763321 A/G CTCCTCCTGGCTCTCA
TCCTCCTGGCTCTCG CTGGAGCAGAACCTGTCAGAC (SEQ ID NO: 696) (SEQ ID NO:
697) (SEQ ID NO: 698) hCV25766419 G/T GGTTCTAACCCCATCTTTCC
GGTTCTAACCCCATCTTTCA CTTGGCAGTGTAGAAGGCTGAAAC (SEQ ID NO: 699) (SEQ
ID NO: 700) (SEQ ID NO: 701) hCV26144018 A/G TCCTCCACTACCCTCAGA
CCTCCACTACCCTCAGG GTCTCCACCTTCACGATGTTTACAT (SEQ ID NO: 702) (SEQ
ID NO: 703) (SEQ ID NO: 704) hCV26144282 A/T TCAGGACAAGAATCTCATTTCA
TTCAGGACAAGAATCTCATTTC TATGAGCCTTTCACATACGTGTATTA TT ATA CAGA (SEQ
ID NO: 705) (SEQ ID NO: 706) (SEQ ID NO: 707) hCV26144366 G/T
GCAAAGAGCTGAGAGAATCC GCAAAGAGCTGAGAGAATCA GACAGACACAAGGACCATCCTGATA
(SEQ ID NO: 708) (SEQ ID NO: 709) (SEQ ID NO: 710) hCV2644 A/C
CTGCAGGTATTTGGGGAA CTGCAGGTATTTGGGGAC GTATGGGAAGAGCTTCACCTACTGT
(SEQ ID NO: 711) (SEQ ID NO: 712) (SEQ ID NO: 713) hCV27476319 A/G
CCAAACTTACCTGGCTGTTTATA CAAACTTACCTGGCTGTTTATG
GTGTTTTGCCTGGGTTTTGAAGAAC (SEQ ID NO: 714) (SEQ ID NO: 715) (SEQ ID
NO: 716) hCV2783582 A/G CTCATAAGAAGGTCACATGTCAT
CTCATAAGAAGGTCACATGTCAC ATGTATGCCATGCCACTTTTGTCA (SEQ ID NO: 717)
(SEQ ID NO: 718) (SEQ ID NO: 719) hCV2783586 C/G
TGTTCATTCTGTGTACCTTCAG TGTTCATTCTGTGTACCTTCAC
GGCTATTTCCTGCCATCTCTGTAAAC (SEQ ID NO: 720) (SEQ ID NO: 721) (SEQ
ID NO: 722) hCV2783589 C/T GCTTTCAGATAACAGACAAACAC
AGCTTTCAGATAACAGACAAAC CTGATGAGCGGCTTCGGTTAAA (SEQ ID NO: 723) AT
(SEQ ID NO: 725) (SEQ ID NO: 724) hCV2783590 C/T
CAATGGGGACAATCTCAGC ACAATGGGGACAATCTCAGT ATTCATAGATGAGGGTATTTCTGGTG
(SEQ ID NO: 726) (SEQ ID NO: 727) TTGA (SEQ ID NO: 728) hCV2783591
C/G CCCTGCTGACACCTTAATC CCCTGCTGACACCTTAATG
CGGGATTAAGGGGACAGTTCTATC (SEQ ID NO: 729) (SEQ ID NO: 730) (SEQ ID
NO: 731) hCV2783597 G/T CCACCTCCTAGCTTGTAGAG CCACCTCCTAGCTTGTAGAT
GGGTCTCAGGAGAACTCGATTGT (SEQ ID NO: 732) (SEQ ID NO: 733) (SEQ ID
NO: 734) hCV2783604 C/T ACTTAACATCCTGTTATCACAT
CACTTAACATCCTGTTATCACA GCACCCGGCCTTGACTT TCTG TTCTA (SEQ ID NO:
737) (SEQ ID NO: 735) (SEQ ID NO: 736) hCV2783608 A/T
GTAGTAGGGTCCTGACTTGA GTAGTAGGGTCCTGACTTGT GAGAGAAGCCTGGGCAATACTG
(SEQ ID NO: 738) (SEQ ID NO: 739) (SEQ ID NO: 740) hCV2783611 A/G
GGGGAACCTCCGTCTGT GGGAACCTCCGTCTGC AAAGTTTTGCTTCATCAACTACA (SEQ ID
NO: 741) (SEQ ID NO: 742) (SEQ ID NO: 743) hCV2783618 C/T
GCCAGCTGACAAACACTG GGCCAGCTGACAAACACTA CCAAGGTCAGCGGCTCAAA (SEQ ID
NO: 744) (SEQ ID NO: 745) (SEQ ID NO: 746) hCV2783620 C/G
TGCCCCAGATGTGTTTTC TGCCCCAGATGTGTTTTG TGAGCTGGATTCCTGGTGGATAAG (SEQ
ID NO: 747) (SEQ ID NO: 748) (SEQ ID NO: 749) hCV2783621 C/T
TGAGTGTGAGAAAGGAGATCTG CTGAGTGTGAGAAAGGAGATCTA
GCTCTGATGCTTGGGAAAGTCAT (SEQ ID NO: 750) (SEQ ID NO: 751) (SEQ ID
NO: 752) hCV2783625 A/G GGAGGTGACCTTGGATTATCT GGAGGTGACCTTGGATTATCC
TTGTGGTCCCTTCCTCCATCTTC (SEQ ID NO: 753) (SEQ ID NO: 754) (SEQ ID
NO: 755) hCV2783633 G/T GTTCCAAGAACATGCATTTGG
AGTTCCAAGAACATGCATTTGT CTCTGAGCTGGTCCCTCTCAT (SEQ ID NO: 756) (SEQ
ID NO: 757) (SEQ ID NO: 758) hCV2783634 C/G GAGACCATTATCAGCTCACG
GAGACCATTATCAGCTCACC
GAGGGCCAGGGTTCTAAATTGTA (SEQ ID NO: 759) (SEQ ID NO: 760) (SEQ ID
NO: 761) hCV2783638 C/T ACTTTCACAGTGGTTTCAGATC
ACTTTCACAGTGGTTTCAGATT CCCAGGGCCCACAGTTAGTAA (SEQ ID NO: 762) (SEQ
ID NO: 763) (SEQ ID NO: 764) hCV2783641 C/G CTTTTCTTATTAGAGCAGGTT
CTTTTCTTATTAGAGCAGGTT TCCTTCCCCTGGTTTGGGATAAA GG GC (SEQ ID NO:
767) (SEQ ID NO: 765) (SEQ ID NO: 766) hCV2783653 A/G
CAACCTGTGAACATGAGAATACT AACCTGTGAACATGAGAATACC
GGTGTTGTTTGCCTCTATCACATCT (SEQ ID NO: 768) (SEQ ID NO: 769) (SEQ ID
NO: 770) hCV2783655 A/G TCCAAGCCTCACTTTGTGT CCAAGCCTCACTTTGTGC
CTGCTGTATGAACTTGGGTCTGG (SEQ ID NO: 771) (SEQ ID NO: 772) (SEQ ID
NO: 773) hCV2783663 G/T CTTCATCTTGGAATGCTCAAAAG
CTTCATCTTGGAATGCTCAAAAT ACCATTAGACTAGTTAAGATCACTAA (SEQ ID NO: 774)
(SEQ ID NO: 775) GGATGTGA (SEQ ID NO: 776) hCV2783668 C/T
GGCTACTTGTGAGTTCTTTGG GGCTACTTGTGAGTTCTTTGA
GGTATTTGGCAACTGTTAACTTTGTGGA (SEQ ID NO: 777) (SEQ ID NO: 778) (SEQ
ID NO: 779) hCV2783677 C/T GGAACAGATGATTTCAATGGTC
GGAACAGATGATTTCAATGGTC GTTTCTTACAAGCATAAAGGTGCCTTA TC TT CA (SEQ ID
NO: 780) (SEQ ID NO: 781) (SEQ ID NO: 782) hCV2783678 C/G
CCAGTAGAGGTAAATGAAGAAC CCAGTAGAGGTAAATGAAGAAC
CTGTTTAGGACATAGCTGACACTCAA TTTG TTTC (SEQ ID NO: 785) (SEQ ID NO:
783) (SEQ ID NO: 784) hCV2783699 C/T CATGTGCAGGTCTGTTGTAC
CATGTGCAGGTCTGTTGTAT GTGGAGGGTGAGAGAAGGGTAAAG (SEQ ID NO: 786) (SEQ
ID NO: 787) (SEQ ID NO: 788) hCV27912350 A/G GCAAATGTAGGACTCTTGATGT
CAAATGTAGGACTCTTGATGTTG CGAACAGAGCCTAGCAAATGGTAAAT TA (SEQ ID NO:
790) (SEQ ID NO: 791) (SEQ ID NO: 789) hCV27912351 G/T
GCCTGGGGCTTATAAAAGG GCCTGGGGCTTATAAAAGT GGCAAACAACAGGCAAATGTGA (SEQ
ID NO: 792) (SEQ ID NO: 793) (SEQ ID NO: 794) hCV28010798 C/G
TGAGGAGACAAAGTGGCTC TGAGGAGACAAAGTGGCTG AGTGATAGGGAATTTGTAGCCGTCTTT
(SEQ ID NO: 795) (SEQ ID NO: 796) (SEQ ID NO: 797) hCV29005933 C/T
TTGCTTTAACTCCCTTGTAGC CTTGCTTTAACTCCCTTGTAGT CAGGCTCGGATGAACCTCAAAG
(SEQ ID NO: 798) (SEQ ID NO: 799) (SEQ ID NO: 800) hCV29005936 A/G
TGGGTTGAAGCCTCAATTCTA GGGTTGAAGCCTCAATTCTG
CGCAATTATTTGGACAAATGAGGAAA (SEQ ID NO: 801) (SEQ ID NO: 802) CATG
(SEQ ID NO: 803) hCV29005938 C/G TCCTTAGCCCTTTAATTGGATT
TCCTTAGCCCTTTAATTGGATT TTGCAGAGGAATCGGAATCAGGATATT TG TC (SEQ ID
NO: 806) (SEQ ID NO: 804) (SEQ ID NO: 805) hCV29005968 C/T
TCCATACCTCTGTTCGGC TTCCATACCTCTGTTCGGT TCAGGGCTACGGTGATGTTTCA (SEQ
ID NO: 807) (SEQ ID NO: 808) (SEQ ID NO: 809) hCV29005978 A/G
AGCTATCCCCCTACCGT GCTATCCCCCTACCGC GACAGGAAATTCCCCTGAACTCT (SEQ ID
NO: 810) (SEQ ID NO: 811) (SEQ ID NO: 812) hCV29005979 A/T
TGGTCCTACTGTCCCTACT TGGTCCTACTGTCCCTACA GCCCTGTTCCTTCCTGTGTT (SEQ
ID NO: 813) (SEQ ID NO: 814) (SEQ ID NO: 815) hCV29006006 A/T
GAGTCAGTCTTTTATGATCACA GAGTCAGTCTTTTATGATCACA
GCTGCATTGACTATTTGCGAGATATT CT CA TTG (SEQ ID NO: 816) (SEQ ID NO:
817) (SEQ ID NO: 818) hCV29752541 A/T CTGCACAAAGGAGAACACA
CTGCACAAAGGAGAACACT CGTACTCCAATCTGGGACTAGA (SEQ ID NO: 819) (SEQ ID
NO: 820) (SEQ ID NO: 821) hCV29824827 C/T TTGAGCTTTGGGCAAGTC
TTTGAGCTTTGGGCAAGTT TGTGACTCCTCACAACAACTTATCAT (SEQ ID NO: 822)
(SEQ ID NO: 823) GT (SEQ ID NO: 824) hCV30167357 C/G
CTCCTATCCAAGTGTTAACCAG TCCTATCCAAGTGTTAACCAC
TTAGGAGGCTAGCGTAGCAATCTAG (SEQ ID NO: 825) (SEQ ID NO: 826) (SEQ ID
NO: 827) hCV30203282 C/T AGCTTAGGAAACACCAAATTAA
ATAAGCTTAGGAAACACCAAAT TTGATGTGTCATAATGTGCGTTAGCAT AC TAAAT (SEQ ID
NO: 830) (SEQ ID NO: 828) (SEQ ID NO: 829) hCV30293181 A/G
GTGGAGCTCACAAAAGAGTTAT TGGAGCTCACAAAAGAGTTAC
TCTCTGTTCTCAACGGCTCAGTT (SEQ ID NO: 831) (SEQ ID NO: 832) (SEQ ID
NO: 833) hCV3045792 A/G TTGATCACTAACCTTACTCAGT
TGATCACTAACCTTACTCAGT AGCCCTCAGTAAATGTTAGCCACTAG AAAT AAAC (SEQ ID
NO: 834) (SEQ ID NO: 835) (SEQ ID NO: 836) hCV3045796 A/T
GCCTCTTCATTAAAATCATCAC GCCTCTTCATTAAAATCATCA
GTGACATTGTGTTTTCCTTGATTTAG ATCAT CATCAA AAGC (SEQ ID NO: 837) (SEQ
ID NO: 838) (SEQ ID NO: 839) hCV3045797 C/G ACTACTGTGGCTGTCTGATC
ACTACTGTGGCTGTCTGATG GCTACAGGAGGGGAGACTGATTAC (SEQ ID NO: 840) (SEQ
ID NO: 841) (SEQ ID NO: 842) hCV3045798 G/T CTTTATAGGATGCAAATGCTAA
CTTTATAGGATGCAAATGCTA GGCATCAGAAAGAACAAAGGCTAATT TGAG ATGAT (SEQ ID
NO: 845) (SEQ ID NO: 843) (SEQ ID NO: 844) hCV3045800 A/T
GGGACTTCATTGATGGAAATGTA GGGACTTCATTGATGGAAATGTT
TGAGCGACGTTTCAGAAGAGTCTT (SEQ ID NO: 846) (SEQ ID NO: 847) (SEQ ID
NO: 848) hCV3045802 C/T GGAGCTGTGACAATCGAG GGAGCTGTGACAATCGAA
ACTGTATGACTCCCTTTATGTACTAC (SEQ ID NO: 849) (SEQ ID NO: 850)
AATACATG (SEQ ID NO: 851) hCV3045803 A/C GCATGGACATGAGACAGATT
GCATGGACATGAGACAGATG TGCTTGAATCCCCTCCTCACAT (SEQ ID NO: 852) (SEQ
ID NO: 853) (SEQ ID NO: 854) hCV3045812 C/T GCAGTCAGTGCCTATGC
GGCAGTCAGTGCCTATGT TCCCTCCACCAAATACAGTACTATAT (SEQ ID NO: 855) (SEQ
ID NO: 856) TCTACA (SEQ ID NO: 857) hCV30527383 A/G
AGAGCCTGGTAAAGAAGGT GAGCCTGGTAAAGAAGGC GGCATCTGCTGGCTGAGT (SEQ ID
NO: 858) (SEQ ID NO: 859) (SEQ ID NO: 860) hCV30563728 C/T
TGTAATAGTGCATGAAGGACG AATGTAATAGTGCATGAAGGACA
GCAAACCAACATGGCACATGTATAC (SEQ ID NO: 861) (SEQ ID NO: 862) (SEQ ID
NO: 863) hCV30563729 A/T CGGTGAGAATGCCATGGA CGGTGAGAATGCCATGGT
AGCCAAATTTACCAGAACAGCTAAAC (SEQ ID NO: 864) (SEQ ID NO: 865) TG
(SEQ ID NO: 866) hCV30829490 C/T TGATTCTCCAATGGTTAAGAGC
GTGATTCTCCAATGGTTAAGAGT TGTTGGCCAGGCTGGTTTCA (SEQ ID NO: 867) (SEQ
ID NO: 868) (SEQ ID NO: 869) hCV30829528 G/T GTAAACCCTACCTAAAATGTAC
GTAAACCCTACCTAAAATGTAC GAGGAGATGGAGGGGATGATGAC TGG TGT (SEQ ID NO:
872) (SEQ ID NO: 870) (SEQ ID NO: 871) hCV30830255 C/T
TCCTCCTTGTAGTTAACAATGC GATATCCTCCTTGTAGTTAACA
CAGTCTTACATGCTTCCAAGAAACT (SEQ ID NO: 873) ATGT GG (SEQ ID NO: 874)
(SEQ ID NO: 875) hCV30830340 C/T AGTGGATACTACTGATTTTAGA
GAAGTGGATACTACTGATTTTA GGTGTTACTTTGGATCCTAGGGGTAT CAAC GACAAT TT
(SEQ ID NO: 876) (SEQ ID NO: 877) (SEQ ID NO: 878) hCV30830341 A/G
GAAATTCACTTCAGTAAACATG GAAATTCACTTCAGTAAACATG
GGAGGTGATGGAGCCAAGATTC TACT TACC (SEQ ID NO: 881) (SEQ ID NO: 879)
(SEQ ID NO: 880) hCV30830377 A/G TACCCCATTTTCCATGATATGA
CCCCATTTTCCATGATATGATTG TTTATGTGGGTAAATAGTATTTACGG TTA (SEQ ID NO:
883) GGTACAC (SEQ ID NO: 882) (SEQ ID NO: 884) hCV30830395 C/T
TGACCCAGAGTAGAAGCTG GTTATGACCCAGAGTAGAAGCTA
GCCAGCAAGCAAGTAAAGAAATGATT (SEQ ID NO: 885) (SEQ ID NO: 886) (SEQ
ID NO: 887) hCV30830407 C/G TGTACACATAACAACTGAGAAC
TGTACACATAACAACTGAGAAC CAATAAGCCAATGATGCTGGTACTAT TG TC CA (SEQ ID
NO: 888) (SEQ ID NO: 889) (SEQ ID NO: 890) hCV30830414 C/T
CCTGTGTTATGTTCCACCG TCCTGTGTTATGTTCCACCA GCTGCACAGCAGGAAAGAGAAT
(SEQ ID NO: 891) (SEQ ID NO: 892) (SEQ ID NO: 893) hCV30830415 C/T
GGACAGAATTCTGCAGGC AGGACAGAATTCTGCAGGT CTCAGGACCTCAGACCACTTTAGTTA
(SEQ ID NO: 894) (SEQ ID NO: 895) (SEQ ID NO: 896) hCV30830417 C/T
GCACTAGACCTTGCCCG GCACTAGACCTTGCCCA ACTGTTCCCAAGACCATGATCACT (SEQ
ID NO: 897) (SEQ ID NO: 898) (SEQ ID NO: 899) hCV30830435 A/T
ATCATGATCCGGTCTCTCAT TCATGATCCGGTCTCTCAA GGAATGGGGCATTTGGCTATATTGT
(SEQ ID NO: 900) (SEQ ID NO: 901) (SEQ ID NO: 902) hCV30830484 A/G
CATGTCTCATTTACCTCCTTTCT CATGTCTCATTTACCTCCTTTCC
CCCCTTCCAGTTCTGTGATCTATGA (SEQ ID NO: 903) (SEQ ID NO: 904) (SEQ ID
NO: 905) hCV30830503 G/T CAACCTCACAGATTTGGAGAC
CAACCTCACAGATTTGGAGAA GTTCTCACAGTAATCTGCTGAACAA (SEQ ID NO: 906)
(SEQ ID NO: 907) ACT (SEQ ID NO: 908) hCV30830506 A/G
AAGGGTCATATTGTCTATTTGAG AAGGGTCATATTGTCTATTTGA
CCAGCACTTCCACTGGTTGTT AT GAC (SEQ ID NO: 911) (SEQ ID NO: 909) (SEQ
ID NO: 910) hCV30830512 A/G AGGGGACTTATATGACTTGCAT
GGGGACTTATATGACTTGCAC GCTTACTGTCCACCTGAAGGATTAGA (SEQ ID NO: 912)
(SEQ ID NO: 913) (SEQ ID NO: 914) hCV30830514 A/G
CATAGAGTATACCATGTTTTGAG ATAGAGTATACCATGTTTTGA
GCGGCTATGTATTATAGTTGTTAAGC ACT GACC ATGA (SEQ ID NO: 915) (SEQ ID
NO: 916) (SEQ ID NO: 917) hCV30830536 G/T TGCATGAGGTTTACATTCAGATC
TTGCATGAGGTTTACATTCAGA GAACACTTTAGGAATGGATGGTTTCA (SEQ ID NO: 918)
TA ACT (SEQ ID NO: 919) (SEQ ID NO: 920) hCV30830538 A/C
GGTATGATGCCCTTGAGAA GGTATGATGCCCTTGAGAC TTTCCCAACCTGGCCATTGAC (SEQ
ID NO: 921) (SEQ ID NO: 922) (SEQ ID NO: 923) hCV30830539 C/T
GTGACTTGAGTTTCTCAGGAG GTGACTTGAGTTTCTCAGGAA
CTCATCTTACCACTGATAACACAGTT (SEQ ID NO: 924) (SEQ ID NO: 925) CT
(SEQ ID NO: 926) hCV30830568 C/T CAGACGCATGCCACTAC
ACAGACGCATGCCACTAT ACTTGAACCCAGGAGTTCGAGAATA
(SEQ ID NO: 927) (SEQ ID NO: 928) (SEQ ID NO: 929) hCV30830600 A/T
AGCAGAAGACTTGATGACCTAT GCAGAAGACTTGATGACCTATTT
GCCCCAACTGTATTATGCAGTTTGA TA (SEQ ID NO: 931) (SEQ ID NO: 932) (SEQ
ID NO: 930) hCV30830611 A/C GACCCAAACTATTCACATGGAT
GACCCAAACTATTCACATGGAG CCAGAGGTCGCCACTGTTAAC (SEQ ID NO: 933) (SEQ
ID NO: 934) (SEQ ID NO: 935) hCV30830638 C/T
CATAGTTGTTCTCTCTGATCCTC CATAGTTGTTCTCTCTGATCCTT
TCCTCTGCTGCAATCTCCTCATAG (SEQ ID NO: 936) (SEQ ID NO: 937) (SEQ ID
NO: 938) hCV30830641 C/T GGCTCATAACTGTAGTCTTAGC
TGGCTCATAACTGTAGTCTTAGT GCTGCAGTGCATTGGTACAA (SEQ ID NO: 939) (SEQ
ID NO: 940) (SEQ ID NO: 941) hCV30830652 C/T AATCTATGGCAGTTGCCC
GAATCTATGGCAGTTGCCT TCTGGGGTTGTCAAATTGAGAGACAT (SEQ ID NO: 942)
(SEQ ID NO: 943) (SEQ ID NO: 944) hCV30830668 C/T
GTGTACCATACTTATTCTCCCG TGTGTACCATACTTATTCTCCCA
GAGATGGGTGGTATGGATGGAATGA (SEQ ID NO: 945) (SEQ ID NO: 946) (SEQ ID
NO: 947) hCV30830686 C/T ACTGTAGTAGCCCAGTATCAAG
ACTGTAGTAGCCCAGTATCAAA CCAACATAAGGCTAAGGCAAACACT (SEQ ID NO: 948)
(SEQ ID NO: 949) (SEQ ID NO: 950) hCV30830725 A/T
ATCCTTTTCCCGTAGAATTGAAT ATCCTTTTCCCGTAGAATTGAAA
GAAGATCTCAGGGGCCTCTAAGAG (SEQ ID NO: 951) (SEQ ID NO: 952) (SEQ ID
NO: 953) hCV3121923 A/G CTCCTAACTGGTCCACTCAT TCCTAACTGGTCCACTCAC
GCTGGGTTTTGATGGGGAAGTAG (SEQ ID NO: 954) (SEQ ID NO: 955) (SEQ ID
NO: 956) hCV578218 G/T CCCATACTCCACTAACAAGGAC
CCCATACTCCACTAACAAGGAA CTTGCAGAATGTCTTAGGGGACTAGT (SEQ ID NO: 957)
(SEQ ID NO: 958) (SEQ ID NO: 959) hCV578219 C/T GCCTTTGGGAAACGCC
GCCTTTGGGAAACGCT CCACCCCTTTGAATCCCATACTC (SEQ ID NO: 960) (SEQ ID
NO: 961) (SEQ ID NO: 962) hCV578224 C/T GGTTTTGCACAAGGCATG
GGGTTTTGCACAAGGCATA GCACATGTGCAGGATGAGAAAGATAC (SEQ ID NO: 963)
(SEQ ID NO: 964) (SEQ ID NO: 965) hCV7577155 C/G
GACAGATGAGAAGTCACTTCAAC GACAGATGAGAAGTCACTTCAAG
GCTGGGATTACATGCATGAGTCA (SEQ ID NO: 966) (SEQ ID NO: 967) (SEQ ID
NO: 968) hCV7577254 C/T TCCTTATAAAATCAGACAGTTC
TCCTTATAAAATCAGACAGTTC GCCTCAAAGGGAAACAAGCCTTAAT TGC TGT (SEQ ID
NO: 971) (SEQ ID NO: 969) (SEQ ID NO: 970) hCV7577271 A/G
TCTTCACAACAGCAGATACCA CTTCACAACAGCAGATACCG
CACCACCCTACTTACTAGCTTTGAGTA (SEQ ID NO: 972) (SEQ ID NO: 973) (SEQ
ID NO: 974) hCV7577296 C/T TATTTTGGTTTCTTGGCTCATA
TTATTTTGGTTTCTTGGCTCAT AGACCCAGTGATTCCAACCAATATCAT TAAG ATAAA (SEQ
ID NO: 977) (SEQ ID NO: 975) (SEQ ID NO: 976) hCV7577317 C/G
GTAAAATTTAAAAGAACTGAAA GTAAAATTTAAAAGAACTGAAA
GAAGAATTATATCACTGCTTCTCATGA TGGAAGAG TGGAAGAC ATCTCAC (SEQ ID NO:
978) (SEQ ID NO: 979) (SEQ ID NO 980) hCV7577337 A/G
CTCCAGTGTGTCTCATTTGT TCCAGTGTGTCTCATTTGC GAGATTCAGGGACGGAAAGAAGC
(SEQ ID NO: 981) (SEQ ID NO: 982) (SEQ ID NO: 983) hCV7577344 A/T
TTCCCTTCCAGATAACATCCA TTCCCTTCCAGATAACATCCT
CTGTAAGGAGCCCTAGGAAGAATTATG (SEQ ID NO: 984) (SEQ ID NO: 985) (SEQ
ID NO: 986) hCV8605400 A/C GACTCCAATGTCATGTTCTTTGA
CTCCAATGTCATGTTCTTTGC GTACCCACTCAGGAGCTCTTAGT (SEQ ID NO: 987) (SEQ
ID NO: 988) (SEQ ID NO: 989) hCV8780517 A/G GAGACTCCCATCACAGAGT
AGACTCCCATCACAGAGC ACCAAACCCATCTCCACTTTACAGT (SEQ ID NO: 990) (SEQ
ID NO: 991) (SEQ ID NO: 992) hCV8780962 A/G TGGGATGAGCAATCCTGTTAT
GGGATGAGCAATCCTGTTAC ACCTCATTAGGCCTTGTGCTATCT (SEQ ID NO: 993) (SEQ
ID NO: 994) (SEQ ID NO: 995) hCV8780967 C/T ACAGCAACCTGAAAGATTACAG
ACAGCAACCTGAAAGATTACAA GTTTTGTGTGTGTGTGTGTGTGAT (SEQ ID NO: 996)
(SEQ ID NO: 997) (SEQ ID NO: 998) hCV8780973 A/G
CAAGCATCCTGACTTCATTTAGA AAGCATCCTGACTTCATTTAGG
GAGACCTTACTTTTAGGACACCGTAGTT (SEQ ID NO: 999) (SEQ ID NO: 1000)
(SEQ ID NO: 1001) hDV70729405 C/T CTAACCACAACCTACCACAC
CTAACCACAACCTACCACAT TTGGAACCTTCGATTCTCCAGATCT (SEQ ID NO:1002)
(SEQ ID NO: 1003) (SEQ ID NO: 1004)
TABLE-US-00003 TABLE 4 Interrogated SNP Interrogated rs LD SNP LD
SNP rs Power Threshold r.sup.2 r.sup.2 hCV11266229 rs10435844
hCV11266268 rs10760121 0.51 0.411716825 0.9666 hCV11266229
rs10435844 hCV11720350 rs2057469 0.51 0.411716825 0.4465
hCV11266229 rs10435844 hCV11720413 rs1930782 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV11720414 rs1930781 0.51
0.411716825 1 hCV11266229 rs10435844 hCV15849105 rs2900185 0.51
0.411716825 0.4708 hCV11266229 rs10435844 hCV15849116 rs2900180
0.51 0.411716825 1 hCV11266229 rs10435844 hCV15870898 rs2072438
0.51 0.411716825 0.6467 hCV11266229 rs10435844 hCV16124825
rs2109895 0.51 0.411716825 1 hCV11266229 rs10435844 hCV16175379
rs2239657 0.51 0.411716825 0.9664 hCV11266229 rs10435844
hCV16234795 rs2416804 0.51 0.411716825 0.6341 hCV11266229
rs10435844 hCV16234838 rs2416819 0.51 0.411716825 0.4465
hCV11266229 rs10435844 hCV16234840 rs2416817 0.51 0.411716825
0.4708 hCV11266229 rs10435844 hCV1632195 rs1998505 0.51 0.411716825
0.4708 hCV11266229 rs10435844 hCV1761888 rs1953126 0.51 0.411716825
0.9666 hCV11266229 rs10435844 hCV1761891 rs1930778 0.51 0.411716825
0.9602 hCV11266229 rs10435844 hCV1761894 rs1609810 0.51 0.411716825
0.9609 hCV11266229 rs10435844 hCV2359565 rs1014530 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV25613469 rs10760157 0.51
0.411716825 0.4465 hCV11266229 rs10435844 hCV25751916 rs10985070
0.51 0.411716825 0.6467 hCV11266229 rs10435844 hCV25771057
rs10760150 0.51 0.411716825 0.4708 hCV11266229 rs10435844
hCV2783582 rs10818482 0.51 0.411716825 0.6467 hCV11266229
rs10435844 hCV2783586 rs2270231 0.51 0.411716825 0.9666 hCV11266229
rs10435844 hCV2783589 rs881375 0.51 0.411716825 0.9666 hCV11266229
rs10435844 hCV2783590 rs6478486 0.51 0.411716825 0.9666 hCV11266229
rs10435844 hCV2783591 rs1468671 0.51 0.411716825 1 hCV11266229
rs10435844 hCV2783593 rs1548783 0.51 0.411716825 1 hCV11266229
rs10435844 hCV2783597 rs1860824 0.51 0.411716825 1 hCV11266229
rs10435844 hCV2783599 rs7046108 0.51 0.411716825 1 hCV11266229
rs10435844 hCV2783604 rs10760126 0.51 0.411716825 0.6875
hCV11266229 rs10435844 hCV2783607 rs9886724 0.51 0.411716825 0.6785
hCV11266229 rs10435844 hCV2783608 rs4836834 0.51 0.411716825 0.6687
hCV11266229 rs10435844 hCV2783609 rs2241003 0.51 0.411716825 0.9321
hCV11266229 rs10435844 hCV2783611 rs10435843 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783618 rs2239658 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783620 rs7021880 0.51 0.411716825 0.9301
hCV11266229 rs10435844 hCV2783621 rs2416805 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783622 rs758959 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783625 rs10118357 0.51 0.411716825
0.6645 hCV11266229 rs10435844 hCV2783630 rs2269060 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV2783633 rs7021049 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV2783634 rs1014529 0.51 0.411716825
1 hCV11266229 rs10435844 hCV2783635 rs1930780 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783638 rs3761846 0.51 0.411716825 0.6687
hCV11266229 rs10435844 hCV2783640 rs3761847 0.51 0.411716825 0.6341
hCV11266229 rs10435844 hCV2783641 rs2416806 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783647 rs10739580 0.51 0.411716825 1
hCV11266229 rs10435844 hCV2783650 rs10760129 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV2783653 rs10760130 0.51
0.411716825 0.6687 hCV11266229 rs10435844 hCV2783655 rs10818488
0.51 0.411716825 0.6687 hCV11266229 rs10435844 hCV2783656 rs4837804
0.51 0.411716825 0.8956 hCV11266229 rs10435844 hCV2783659 rs7039505
0.51 0.411716825 1 hCV11266229 rs10435844 hCV27912350 rs4837808
0.51 0.411716825 0.4708 hCV11266229 rs10435844 hCV27912351
rs4837809 0.51 0.411716825 0.4708 hCV11266229 rs10435844
hCV29005923 rs6478494 0.51 0.411716825 0.4238 hCV11266229
rs10435844 hCV29005924 rs7031128 0.51 0.411716825 0.4264
hCV11266229 rs10435844 hCV29005976 rs7037195 0.51 0.411716825
0.6687 hCV11266229 rs10435844 hCV29005978 rs7021206 0.51
0.411716825 1 hCV11266229 rs10435844 hCV29006006 rs7034390 0.51
0.411716825 0.9666 hCV11266229 rs10435844 hCV30059070 rs10156413
0.51 0.411716825 0.5258 hCV11266229 rs10435844 hCV3045792 rs6478499
0.51 0.411716825 0.4879 hCV11266229 rs10435844 hCV3045801 rs2057465
0.51 0.411716825 0.4332 hCV11266229 rs10435844 hCV30563729
rs9299273 0.51 0.411716825 0.4708 hCV11266229 rs10435844
hCV30830414 rs7871371 0.51 0.411716825 0.417 hCV11266229 rs10435844
hCV30830468 rs10818507 0.51 0.411716825 0.4539 hCV11266229
rs10435844 hCV30830473 rs7036649 0.51 0.411716825 0.4705
hCV11266229 rs10435844 hCV30830475 rs10733652 0.51 0.411716825
0.4269 hCV11266229 rs10435844 hCV30830484 rs10818508 0.51
0.411716825 0.4708 hCV11266229 rs10435844 hCV30830486 rs10760149
0.51 0.411716825 0.4708 hCV11266229 rs10435844 hCV30830503
rs4837811 0.51 0.411716825 0.4708 hCV11266229 rs10435844
hCV30830512 rs10818512 0.51 0.411716825 0.4465 hCV11266229
rs10435844 hCV30830521 rs10818513 0.51 0.411716825 0.4465
hCV11266229 rs10435844 hCV30830536 rs7047038 0.51 0.411716825
0.4465 hCV11266229 rs10435844 hCV30830638 rs10985073 0.51
0.411716825 0.6467 hCV11266229 rs10435844 hCV30830725 rs7864019
0.51 0.411716825 1 hCV11266229 rs10435844 hCV30830832 rs10733648
0.51 0.411716825 1 hCV11266229 rs10435844 hCV30830909 rs11794516
0.51 0.411716825 0.6467 hCV11266229 rs10435844 hCV7577250 rs942153
0.51 0.411716825 0.4465 hCV11266229 rs10435844 hCV7577271 rs1535655
0.51 0.411716825 0.4465 hCV11266229 rs10435844 hCV7577287 rs1323478
0.51 0.411716825 0.4708 hCV11266229 rs10435844 hCV7577296 rs1407910
0.51 0.411716825 0.4708 hCV11266229 rs10435844 hCV7577344 rs876445
0.51 0.411716825 1 hCV11720383 rs1951784 hCV11720402 rs17611 0.51
0.849855381 0.9293 hCV11720383 rs1951784 hCV15751718 rs2296078 0.51
0.849855381 0.9649 hCV11720383 rs1951784 hCV15755658 rs2300934 0.51
0.849855381 0.8947 hCV11720383 rs1951784 hCV16234785 rs2416811 0.51
0.849855381 0.9293 hCV11720383 rs1951784 hCV1632190 rs10760146 0.51
0.849855381 1 hCV11720383 rs1951784 hCV2359571 rs25681 0.51
0.849855381 0.9293 hCV11720383 rs1951784 hCV25968825 rs10818504
0.51 0.849855381 1 hCV11720383 rs1951784 hCV26144282 rs10818499
0.51 0.849855381 0.9293 hCV11720383 rs1951784 hCV26144291 rs4570235
0.51 0.849855381 0.9293 hCV11720383 rs1951784 hCV26144296
rs10760143 0.51 0.849855381 1 hCV11720383 rs1951784 hCV27476319
rs3747843 0.51 0.849855381 0.9649 hCV11720383 rs1951784 hCV2783711
rs10733650 0.51 0.849855381 0.9293 hCV11720383 rs1951784
hCV29005933 rs7042135 0.51 0.849855381 0.8947 hCV11720383 rs1951784
hCV29005936 rs6478498 0.51 0.849855381 0.8947 hCV11720383 rs1951784
hCV29734592 rs10435889 0.51 0.849855381 0.9272 hCV11720383
rs1951784 hCV29824827 rs9657673 0.51 0.849855381 1 hCV11720383
rs1951784 hCV30041036 rs10156476 0.51 0.849855381 1 hCV11720383
rs1951784 hCV30167357 rs7022941 0.51 0.849855381 1 hCV11720383
rs1951784 hCV3045797 rs7036541 0.51 0.849855381 1 hCV11720383
rs1951784 hCV3045800 rs3736855 0.51 0.849855381 1 hCV11720383
rs1951784 hCV3045804 rs2057467 0.51 0.849855381 0.9484 hCV11720383
rs1951784 hCV3045808 rs10818516 0.51 0.849855381 0.9294 hCV11720383
rs1951784 hCV3045810 rs2209076 0.51 0.849855381 0.9314 hCV11720383
rs1951784 hCV30830415 rs7855998 0.51 0.849855381 0.8947 hCV11720383
rs1951784 hCV30830427 rs10760142 0.51 0.849855381 0.8947
hCV11720383 rs1951784 hCV30830440 rs10760144 0.51 0.849855381 1
hCV11720383 rs1951784 hCV30830506 rs10760151 0.51 0.849855381 1
hCV11720383 rs1951784 hCV30830537 rs10818515 0.51 0.849855381
0.9646 hCV11720383 rs1951784 hCV30830539 rs10760153 0.51
0.849855381 0.9642 hCV11720383 rs1951784 hCV30830540 rs10760154
0.51 0.849855381 0.9649 hCV11720383 rs1951784 hCV30830541
rs10760155 0.51 0.849855381 0.9649 hCV11720383 rs1951784
hCV30830542 rs10760156 0.51 0.849855381 0.9628 hCV11720383
rs1951784 hCV7577235 rs1052508 0.51 0.849855381 0.9649 hCV11720383
rs1951784 hCV7577248 rs1359086 0.51 0.849855381 0.9314 hCV11720383
rs1951784 hCV7577249 rs1359085 0.51 0.849855381 0.9649 hCV11720383
rs1951784 hCV7577337 rs993247 0.51 0.849855381 0.9293 hCV11720402
rs17611 hCV11720383 rs1951784 0.51 0.853213654 0.9293 hCV11720402
rs17611 hCV15751718 rs2296078 0.51 0.853213654 0.8957 hCV11720402
rs17611 hCV15755658 rs2300934 0.51 0.853213654 0.9646 hCV11720402
rs17611 hCV16234785 rs2416811 0.51 0.853213654 1 hCV11720402
rs17611 hCV1632190 rs10760146 0.51 0.853213654 0.9293 hCV11720402
rs17611 hCV2359571 rs25681 0.51 0.853213654 1 hCV11720402 rs17611
hCV25968825 rs10818504 0.51 0.853213654 0.9293 hCV11720402 rs17611
hCV26144282 rs10818499 0.51 0.853213654 1 hCV11720402 rs17611
hCV26144291 rs4570235 0.51 0.853213654 1 hCV11720402 rs17611
hCV26144296 rs10760143 0.51 0.853213654 0.9279 hCV11720402 rs17611
hCV27476319 rs3747843 0.51 0.853213654 0.8957 hCV11720402 rs17611
hCV2783711 rs10733650 0.51 0.853213654 1 hCV11720402 rs17611
hCV29005933 rs7042135 0.51 0.853213654 0.9646 hCV11720402 rs17611
hCV29005936 rs6478498 0.51 0.853213654 0.9646 hCV11720402 rs17611
hCV29734592 rs10435889 0.51 0.853213654 1 hCV11720402 rs17611
hCV29824827 rs9657673 0.51 0.853213654 0.9251 hCV11720402 rs17611
hCV30041036 rs10156476 0.51 0.853213654 0.9286 hCV11720402 rs17611
hCV30167357 rs7022941 0.51 0.853213654 0.9642 hCV11720402 rs17611
hCV3045797 rs7036541 0.51 0.853213654 0.9272 hCV11720402 rs17611
hCV3045800 rs3736855 0.51 0.853213654 0.9293 hCV11720402 rs17611
hCV3045808 rs10818516 0.51 0.853213654 0.8595 hCV11720402 rs17611
hCV3045810 rs2209076 0.51 0.853213654 0.8635 hCV11720402 rs17611
hCV30830340 rs10760134 0.51 0.853213654 0.8956 hCV11720402 rs17611
hCV30830341 rs7040033 0.51 0.853213654 0.8956 hCV11720402 rs17611
hCV30830415 rs7855998 0.51 0.853213654 0.9646 hCV11720402 rs17611
hCV30830427 rs10760142 0.51 0.853213654 0.9646 hCV11720402 rs17611
hCV30830440 rs10760144 0.51 0.853213654 0.9293 hCV11720402 rs17611
hCV30830506 rs10760151 0.51 0.853213654 0.9293 hCV11720402 rs17611
hCV30830537 rs10818515 0.51 0.853213654 0.8946 hCV11720402 rs17611
hCV30830539 rs10760153 0.51 0.853213654 0.9287 hCV11720402 rs17611
hCV30830540 rs10760154 0.51 0.853213654 0.8956 hCV11720402 rs17611
hCV30830541 rs10760155 0.51 0.853213654 0.8957 hCV11720402 rs17611
hCV30830542 rs10760156 0.51 0.853213654 0.8894 hCV11720402 rs17611
hCV7577235 rs1052508 0.51 0.853213654 0.8957 hCV11720402 rs17611
hCV7577248 rs1359086 0.51 0.853213654 0.8635 hCV11720402 rs17611
hCV7577249 rs1359085 0.51 0.853213654 0.8957 hCV11720402 rs17611
hCV7577337 rs993247 0.51 0.853213654 1 hCV11720413 rs1930782
hCV11266229 rs10435844 0.51 0.320507332 0.6687 hCV11720413
rs1930782 hCV11266268 rs10760121 0.51 0.320507332 0.6344
hCV11720413 rs1930782 hCV11720351 rs1885995 0.51 0.320507332 0.472
hCV11720413 rs1930782 hCV11720402 rs17611 0.51 0.320507332 0.3301
hCV11720413 rs1930782 hCV11720414 rs1930781 0.51 0.320507332 0.6687
hCV11720413 rs1930782 hCV1452630 rs10818476 0.51 0.320507332 0.3495
hCV11720413 rs1930782 hCV1452651 rs3793638 0.51 0.320507332 0.3281
hCV11720413 rs1930782 hCV1452652 rs1060817 0.51 0.320507332 0.3281
hCV11720413 rs1930782 hCV1452665 rs4837796 0.51 0.320507332 0.3495
hCV11720413 rs1930782 hCV15751717 rs2296077 0.51 0.320507332 0.4129
hCV11720413 rs1930782 hCV15751719 rs2146838 0.51 0.320507332 0.472
hCV11720413 rs1930782 hCV15757738 rs2302498 0.51 0.320507332 0.4266
hCV11720413 rs1930782 hCV15849116 rs2900180 0.51 0.320507332 0.6587
hCV11720413 rs1930782 hCV15870898 rs2072438 0.51 0.320507332 0.9671
hCV11720413 rs1930782 hCV16124825 rs2109895 0.51 0.320507332 0.6687
hCV11720413 rs1930782 hCV16175379 rs2239657 0.51 0.320507332 0.6463
hCV11720413 rs1930782 hCV16234785 rs2416811 0.51 0.320507332 0.3301
hCV11720413 rs1930782 hCV16234795 rs2416804 0.51 0.320507332 0.9672
hCV11720413 rs1930782 hCV1761881 rs3933326 0.51 0.320507332 0.3254
hCV11720413 rs1930782 hCV1761888 rs1953126 0.51 0.320507332 0.6344
hCV11720413 rs1930782 hCV1761891 rs1930778 0.51 0.320507332 0.5775
hCV11720413 rs1930782 hCV1761894 rs1609810 0.51 0.320507332 0.6068
hCV11720413 rs1930782 hCV22272588 rs10760117 0.51 0.320507332
0.3495 hCV11720413 rs1930782 hCV2359565 rs1014530 0.51 0.320507332
1 hCV11720413 rs1930782 hCV2359571 rs25681 0.51 0.320507332 0.3301
hCV11720413 rs1930782 hCV25751916 rs10985070 0.51 0.320507332
0.9671 hCV11720413 rs1930782 hCV26144282 rs10818499 0.51
0.320507332 0.3301 hCV11720413 rs1930782 hCV26144291 rs4570235 0.51
0.320507332 0.3301 hCV11720413 rs1930782 hCV26144307 rs1016468 0.51
0.320507332 0.472 hCV11720413 rs1930782 hCV26144332 rs4837813 0.51
0.320507332 0.4513 hCV11720413 rs1930782 hCV2783582 rs10818482 0.51
0.320507332 0.9671 hCV11720413 rs1930782 hCV2783586 rs2270231 0.51
0.320507332 0.6344 hCV11720413 rs1930782 hCV2783589 rs881375 0.51
0.320507332 0.6344 hCV11720413 rs1930782 hCV2783590 rs6478486 0.51
0.320507332 0.6344 hCV11720413 rs1930782 hCV2783591 rs1468671 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783593 rs1548783 0.51
0.320507332 0.6645 hCV11720413 rs1930782 hCV2783597 rs1860824 0.51
0.320507332 0.6581 hCV11720413 rs1930782 hCV2783599 rs7046108 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783604 rs10760126 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783607 rs9886724 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783608 rs4836834 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783609 rs2241003 0.51
0.320507332 0.7074 hCV11720413 rs1930782 hCV2783611 rs10435843 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783618 rs2239658 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783620 rs7021880 0.51
0.320507332 0.6088 hCV11720413 rs1930782 hCV2783621 rs2416805 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783622 rs758959 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783625 rs10118357 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783630 rs2269060 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783633 rs7021049 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783634 rs1014529 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783635 rs1930780 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783638 rs3761846 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783640 rs3761847 0.51
0.320507332 0.9672 hCV11720413 rs1930782 hCV2783641 rs2416806 0.51
0.320507332 0.6594 hCV11720413 rs1930782 hCV2783647 rs10739580 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV2783650 rs10760129 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783653 rs10760130 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783655 rs10818488 0.51
0.320507332 1 hCV11720413 rs1930782 hCV2783656 rs4837804 0.51
0.320507332 0.775 hCV11720413 rs1930782 hCV2783659 rs7039505 0.51
0.320507332 0.6562 hCV11720413 rs1930782 hCV2783711 rs10733650 0.51
0.320507332 0.3723 hCV11720413 rs1930782 hCV2783718 rs10818500 0.51
0.320507332 0.6661 hCV11720413 rs1930782 hCV29005955 rs7036980 0.51
0.320507332 0.4056 hCV11720413 rs1930782 hCV29005976 rs7037195 0.51
0.320507332 1 hCV11720413 rs1930782 hCV29005978 rs7021206 0.51
0.320507332 0.7031 hCV11720413 rs1930782 hCV29006006 rs7034390 0.51
0.320507332 0.6344 hCV11720413 rs1930782 hCV29879049 rs9792437 0.51
0.320507332 0.4468 hCV11720413 rs1930782 hCV3045812 rs7030849 0.51
0.320507332 0.4468 hCV11720413 rs1930782 hCV30829523 rs12343516
0.51 0.320507332 0.3281 hCV11720413 rs1930782 hCV30830319 rs7037673
0.51 0.320507332 0.517 hCV11720413 rs1930782 hCV30830325 rs10818494
0.51 0.320507332 0.4154 hCV11720413 rs1930782 hCV30830340
rs10760134 0.51 0.320507332 0.3949 hCV11720413 rs1930782
hCV30830341 rs7040033 0.51 0.320507332 0.3949 hCV11720413 rs1930782
hCV30830419 rs10985140 0.51 0.320507332 0.6317 hCV11720413
rs1930782 hCV30830474 rs10739590 0.51 0.320507332 0.5169
hCV11720413 rs1930782 hCV30830638 rs10985073 0.51 0.320507332
0.9671 hCV11720413 rs1930782 hCV30830725 rs7864019 0.51 0.320507332
0.6687 hCV11720413 rs1930782 hCV30830832 rs10733648 0.51
0.320507332 0.6687 hCV11720413 rs1930782 hCV30830909 rs11794516
0.51 0.320507332 0.9671 hCV11720413 rs1930782 hCV7577254 rs942152
0.51 0.320507332 0.3797 hCV11720413 rs1930782 hCV7577317 rs1323472
0.51 0.320507332 0.6604 hCV11720413 rs1930782 hCV7577331 rs1468673
0.51 0.320507332 0.6604 hCV11720413 rs1930782 hCV7577337 rs993247
0.51 0.320507332 0.3301 hCV11720413 rs1930782 hCV7577344 rs876445
0.51 0.320507332 0.6687 hCV11720413 rs1930782 hCV782875 rs746182
0.51 0.320507332 0.4513 hCV11720414 rs1930781 hCV11266229
rs10435844 0.51 0.412311868 1 hCV11720414 rs1930781 hCV11266268
rs10760121 0.51 0.412311868 0.9666 hCV11720414 rs1930781
hCV11720350 rs2057469 0.51 0.412311868 0.4465 hCV11720414 rs1930781
hCV11720413 rs1930782 0.51 0.412311868 0.6687
hCV11720414 rs1930781 hCV15849105 rs2900185 0.51 0.412311868 0.4708
hCV11720414 rs1930781 hCV15849116 rs2900180 0.51 0.412311868 1
hCV11720414 rs1930781 hCV15870898 rs2072438 0.51 0.412311868 0.6467
hCV11720414 rs1930781 hCV16124825 rs2109895 0.51 0.412311868 1
hCV11720414 rs1930781 hCV16175379 rs2239657 0.51 0.412311868 0.9664
hCV11720414 rs1930781 hCV16234795 rs2416804 0.51 0.412311868 0.6341
hCV11720414 rs1930781 hCV16234838 rs2416819 0.51 0.412311868 0.4465
hCV11720414 rs1930781 hCV16234840 rs2416817 0.51 0.412311868 0.4708
hCV11720414 rs1930781 hCV1632195 rs1998505 0.51 0.412311868 0.4708
hCV11720414 rs1930781 hCV1761888 rs1953126 0.51 0.412311868 0.9666
hCV11720414 rs1930781 hCV1761891 rs1930778 0.51 0.412311868 0.9602
hCV11720414 rs1930781 hCV1761894 rs1609810 0.51 0.412311868 0.9609
hCV11720414 rs1930781 hCV2359565 rs1014530 0.51 0.412311868 0.6687
hCV11720414 rs1930781 hCV25613469 rs10760157 0.51 0.412311868
0.4465 hCV11720414 rs1930781 hCV25751916 rs10985070 0.51
0.412311868 0.6467 hCV11720414 rs1930781 hCV25771057 rs10760150
0.51 0.412311868 0.4708 hCV11720414 rs1930781 hCV2783582 rs10818482
0.51 0.412311868 0.6467 hCV11720414 rs1930781 hCV2783586 rs2270231
0.51 0.412311868 0.9666 hCV11720414 rs1930781 hCV2783589 rs881375
0.51 0.412311868 0.9666 hCV11720414 rs1930781 hCV2783590 rs6478486
0.51 0.412311868 0.9666 hCV11720414 rs1930781 hCV2783591 rs1468671
0.51 0.412311868 1 hCV11720414 rs1930781 hCV2783593 rs1548783 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783597 rs1860824 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783599 rs7046108 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783604 rs10760126 0.51
0.412311868 0.6875 hCV11720414 rs1930781 hCV2783607 rs9886724 0.51
0.412311868 0.6785 hCV11720414 rs1930781 hCV2783608 rs4836834 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783609 rs2241003 0.51
0.412311868 0.9321 hCV11720414 rs1930781 hCV2783611 rs10435843 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783618 rs2239658 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783620 rs7021880 0.51
0.412311868 0.9301 hCV11720414 rs1930781 hCV2783621 rs2416805 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783622 rs758959 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783625 rs10118357 0.51
0.412311868 0.6645 hCV11720414 rs1930781 hCV2783630 rs2269060 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783633 rs7021049 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783634 rs1014529 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783635 rs1930780 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783638 rs3761846 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783640 rs3761847 0.51
0.412311868 0.6341 hCV11720414 rs1930781 hCV2783641 rs2416806 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783647 rs10739580 0.51
0.412311868 1 hCV11720414 rs1930781 hCV2783650 rs10760129 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783653 rs10760130 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783655 rs10818488 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV2783656 rs4837804 0.51
0.412311868 0.8956 hCV11720414 rs1930781 hCV2783659 rs7039505 0.51
0.412311868 1 hCV11720414 rs1930781 hCV27912350 rs4837808 0.51
0.412311868 0.4708 hCV11720414 rs1930781 hCV27912351 rs4837809 0.51
0.412311868 0.4708 hCV11720414 rs1930781 hCV29005923 rs6478494 0.51
0.412311868 0.4238 hCV11720414 rs1930781 hCV29005924 rs7031128 0.51
0.412311868 0.4264 hCV11720414 rs1930781 hCV29005976 rs7037195 0.51
0.412311868 0.6687 hCV11720414 rs1930781 hCV29005978 rs7021206 0.51
0.412311868 1 hCV11720414 rs1930781 hCV29006006 rs7034390 0.51
0.412311868 0.9666 hCV11720414 rs1930781 hCV30059070 rs10156413
0.51 0.412311868 0.5258 hCV11720414 rs1930781 hCV3045792 rs6478499
0.51 0.412311868 0.4879 hCV11720414 rs1930781 hCV3045801 rs2057465
0.51 0.412311868 0.4332 hCV11720414 rs1930781 hCV30563729 rs9299273
0.51 0.412311868 0.4708 hCV11720414 rs1930781 hCV30830414 rs7871371
0.51 0.412311868 0.417 hCV11720414 rs1930781 hCV30830468 rs10818507
0.51 0.412311868 0.4539 hCV11720414 rs1930781 hCV30830473 rs7036649
0.51 0.412311868 0.4705 hCV11720414 rs1930781 hCV30830475
rs10733652 0.51 0.412311868 0.4269 hCV11720414 rs1930781
hCV30830484 rs10818508 0.51 0.412311868 0.4708 hCV11720414
rs1930781 hCV30830486 rs10760149 0.51 0.412311868 0.4708
hCV11720414 rs1930781 hCV30830503 rs4837811 0.51 0.412311868 0.4708
hCV11720414 rs1930781 hCV30830512 rs10818512 0.51 0.412311868
0.4465 hCV11720414 rs1930781 hCV30830521 rs10818513 0.51
0.412311868 0.4465 hCV11720414 rs1930781 hCV30830536 rs7047038 0.51
0.412311868 0.4465 hCV11720414 rs1930781 hCV30830638 rs10985073
0.51 0.412311868 0.6467 hCV11720414 rs1930781 hCV30830725 rs7864019
0.51 0.412311868 1 hCV11720414 rs1930781 hCV30830832 rs10733648
0.51 0.412311868 1 hCV11720414 rs1930781 hCV30830909 rs11794516
0.51 0.412311868 0.6467 hCV11720414 rs1930781 hCV7577250 rs942153
0.51 0.412311868 0.4465 hCV11720414 rs1930781 hCV7577271 rs1535655
0.51 0.412311868 0.4465 hCV11720414 rs1930781 hCV7577287 rs1323478
0.51 0.412311868 0.4708 hCV11720414 rs1930781 hCV7577296 rs1407910
0.51 0.412311868 0.4708 hCV11720414 rs1930781 hCV7577344 rs876445
0.51 0.412311868 1 hCV15849116 rs2900180 hCV11266229 rs10435844
0.51 0.548091403 1 hCV15849116 rs2900180 hCV11266268 rs10760121
0.51 0.548091403 0.9622 hCV15849116 rs2900180 hCV11720413 rs1930782
0.51 0.548091403 0.6587 hCV15849116 rs2900180 hCV11720414 rs1930781
0.51 0.548091403 1 hCV15849116 rs2900180 hCV15870898 rs2072438 0.51
0.548091403 0.6342 hCV15849116 rs2900180 hCV16124825 rs2109895 0.51
0.548091403 1 hCV15849116 rs2900180 hCV16175379 rs2239657 0.51
0.548091403 0.962 hCV15849116 rs2900180 hCV16234795 rs2416804 0.51
0.548091403 0.6181 hCV15849116 rs2900180 hCV1761888 rs1953126 0.51
0.548091403 0.9622 hCV15849116 rs2900180 hCV1761891 rs1930778 0.51
0.548091403 0.9553 hCV15849116 rs2900180 hCV1761894 rs1609810 0.51
0.548091403 0.9559 hCV15849116 rs2900180 hCV2359565 rs1014530 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV25751916 rs10985070
0.51 0.548091403 0.6342 hCV15849116 rs2900180 hCV2783582 rs10818482
0.51 0.548091403 0.6342 hCV15849116 rs2900180 hCV2783586 rs2270231
0.51 0.548091403 0.9622 hCV15849116 rs2900180 hCV2783589 rs881375
0.51 0.548091403 0.9622 hCV15849116 rs2900180 hCV2783590 rs6478486
0.51 0.548091403 0.9622 hCV15849116 rs2900180 hCV2783591 rs1468671
0.51 0.548091403 1 hCV15849116 rs2900180 hCV2783593 rs1548783 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783597 rs1860824 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783599 rs7046108 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783604 rs10760126 0.51
0.548091403 0.6795 hCV15849116 rs2900180 hCV2783607 rs9886724 0.51
0.548091403 0.669 hCV15849116 rs2900180 hCV2783608 rs4836834 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783609 rs2241003 0.51
0.548091403 0.9232 hCV15849116 rs2900180 hCV2783611 rs10435843 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783618 rs2239658 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783620 rs7021880 0.51
0.548091403 0.9252 hCV15849116 rs2900180 hCV2783621 rs2416805 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783622 rs758959 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783625 rs10118357 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783630 rs2269060 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783633 rs7021049 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783634 rs1014529 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783635 rs1930780 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783638 rs3761846 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783640 rs3761847 0.51
0.548091403 0.6181 hCV15849116 rs2900180 hCV2783641 rs2416806 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783647 rs10739580 0.51
0.548091403 1 hCV15849116 rs2900180 hCV2783650 rs10760129 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783653 rs10760130 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783655 rs10818488 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV2783656 rs4837804 0.51
0.548091403 0.8894 hCV15849116 rs2900180 hCV2783659 rs7039505 0.51
0.548091403 1 hCV15849116 rs2900180 hCV29005976 rs7037195 0.51
0.548091403 0.6587 hCV15849116 rs2900180 hCV29005978 rs7021206 0.51
0.548091403 1 hCV15849116 rs2900180 hCV29006006 rs7034390 0.51
0.548091403 0.9622 hCV15849116 rs2900180 hCV30830638 rs10985073
0.51 0.548091403 0.6342 hCV15849116 rs2900180 hCV30830725 rs7864019
0.51 0.548091403 1 hCV15849116 rs2900180 hCV30830832 rs10733648
0.51 0.548091403 1 hCV15849116 rs2900180 hCV30830909 rs11794516
0.51 0.548091403 0.6342 hCV15849116 rs2900180 hCV7577344 rs876445
0.51 0.548091403 1 hCV15870898 rs2072438 hCV11266229 rs10435844
0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV11266268
rs10760121 0.51 0.357983748 0.6691 hCV15870898 rs2072438
hCV11720351 rs1885995 0.51 0.357983748 0.4963 hCV15870898 rs2072438
hCV11720413 rs1930782 0.51 0.357983748 0.9671 hCV15870898 rs2072438
hCV11720414 rs1930781 0.51 0.357983748 0.6467 hCV15870898 rs2072438
hCV1452630 rs10818476 0.51 0.357983748 0.3756 hCV15870898 rs2072438
hCV1452665 rs4837796 0.51 0.357983748 0.3756 hCV15870898 rs2072438
hCV15751717 rs2296077 0.51 0.357983748 0.4374 hCV15870898 rs2072438
hCV15751719 rs2146838 0.51 0.357983748 0.4963 hCV15870898 rs2072438
hCV15757738 rs2302498 0.51 0.357983748 0.4505 hCV15870898 rs2072438
hCV15849116 rs2900180 0.51 0.357983748 0.6342 hCV15870898 rs2072438
hCV16124825 rs2109895 0.51 0.357983748 0.6467 hCV15870898 rs2072438
hCV16175379 rs2239657 0.51 0.357983748 0.625 hCV15870898 rs2072438
hCV16234795 rs2416804 0.51 0.357983748 0.9353 hCV15870898 rs2072438
hCV1761888 rs1953126 0.51 0.357983748 0.6691 hCV15870898 rs2072438
hCV1761891 rs1930778 0.51 0.357983748 0.6222 hCV15870898 rs2072438
hCV1761894 rs1609810 0.51 0.357983748 0.6485 hCV15870898 rs2072438
hCV22272588 rs10760117 0.51 0.357983748 0.3756 hCV15870898
rs2072438 hCV2359565 rs1014530 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV25751916 rs10985070 0.51 0.357983748 1 hCV15870898
rs2072438 hCV26144307 rs1016468 0.51 0.357983748 0.4963 hCV15870898
rs2072438 hCV26144332 rs4837813 0.51 0.357983748 0.4761 hCV15870898
rs2072438 hCV2783582 rs10818482 0.51 0.357983748 1 hCV15870898
rs2072438 hCV2783586 rs2270231 0.51 0.357983748 0.6691 hCV15870898
rs2072438 hCV2783589 rs881375 0.51 0.357983748 0.6691 hCV15870898
rs2072438 hCV2783590 rs6478486 0.51 0.357983748 0.6691 hCV15870898
rs2072438 hCV2783591 rs1468671 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783593 rs1548783 0.51 0.357983748 0.6423 hCV15870898
rs2072438 hCV2783597 rs1860824 0.51 0.357983748 0.6357 hCV15870898
rs2072438 hCV2783599 rs7046108 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783604 rs10760126 0.51 0.357983748 0.9666 hCV15870898
rs2072438 hCV2783607 rs9886724 0.51 0.357983748 1 hCV15870898
rs2072438 hCV2783608 rs4836834 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783609 rs2241003 0.51 0.357983748 0.7074 hCV15870898
rs2072438 hCV2783611 rs10435843 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783618 rs2239658 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783620 rs7021880 0.51 0.357983748 0.5878 hCV15870898
rs2072438 hCV2783621 rs2416805 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783622 rs758959 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783625 rs10118357 0.51 0.357983748 0.9665 hCV15870898
rs2072438 hCV2783630 rs2269060 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783633 rs7021049 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783634 rs1014529 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783635 rs1930780 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783638 rs3761846 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783640 rs3761847 0.51 0.357983748 0.9353 hCV15870898
rs2072438 hCV2783641 rs2416806 0.51 0.357983748 0.6594 hCV15870898
rs2072438 hCV2783647 rs10739580 0.51 0.357983748 0.6467 hCV15870898
rs2072438 hCV2783650 rs10760129 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783653 rs10760130 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783655 rs10818488 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV2783656 rs4837804 0.51 0.357983748 0.7472 hCV15870898
rs2072438 hCV2783659 rs7039505 0.51 0.357983748 0.6319 hCV15870898
rs2072438 hCV2783711 rs10733650 0.51 0.357983748 0.3903 hCV15870898
rs2072438 hCV2783718 rs10818500 0.51 0.357983748 0.6972 hCV15870898
rs2072438 hCV29005955 rs7036980 0.51 0.357983748 0.4304 hCV15870898
rs2072438 hCV29005976 rs7037195 0.51 0.357983748 0.9671 hCV15870898
rs2072438 hCV29005978 rs7021206 0.51 0.357983748 0.6788 hCV15870898
rs2072438 hCV29006006 rs7034390 0.51 0.357983748 0.6691 hCV15870898
rs2072438 hCV29879049 rs9792437 0.51 0.357983748 0.4711 hCV15870898
rs2072438 hCV3045812 rs7030849 0.51 0.357983748 0.4711 hCV15870898
rs2072438 hCV30830319 rs7037673 0.51 0.357983748 0.5359 hCV15870898
rs2072438 hCV30830325 rs10818494 0.51 0.357983748 0.4346
hCV15870898 rs2072438 hCV30830340 rs10760134 0.51 0.357983748
0.4135 hCV15870898 rs2072438 hCV30830341 rs7040033 0.51 0.357983748
0.4135 hCV15870898 rs2072438 hCV30830419 rs10985140 0.51
0.357983748 0.6598 hCV15870898 rs2072438 hCV30830474 rs10739590
0.51 0.357983748 0.5521 hCV15870898 rs2072438 hCV30830638
rs10985073 0.51 0.357983748 1 hCV15870898 rs2072438 hCV30830725
rs7864019 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV30830832
rs10733648 0.51 0.357983748 0.6467 hCV15870898 rs2072438
hCV30830909 rs11794516 0.51 0.357983748 1 hCV15870898 rs2072438
hCV7577254 rs942152 0.51 0.357983748 0.4017 hCV15870898 rs2072438
hCV7577317 rs1323472 0.51 0.357983748 0.6896 hCV15870898 rs2072438
hCV7577331 rs1468673 0.51 0.357983748 0.6896 hCV15870898 rs2072438
hCV7577344 rs876445 0.51 0.357983748 0.6467 hCV15870898 rs2072438
hCV782875 rs746182 0.51 0.357983748 0.4761 hCV16175379 rs2239657
hCV11266229 rs10435844 0.51 0.423423973 0.9664 hCV16175379
rs2239657 hCV11266268 rs10760121 0.51 0.423423973 0.9341
hCV16175379 rs2239657 hCV11720413 rs1930782 0.51 0.423423973 0.6463
hCV16175379 rs2239657 hCV11720414 rs1930781 0.51 0.423423973 0.9664
hCV16175379 rs2239657 hCV15849105 rs2900185 0.51 0.423423973 0.4418
hCV16175379 rs2239657 hCV15849116 rs2900180 0.51 0.423423973 0.962
hCV16175379 rs2239657 hCV15870898 rs2072438 0.51 0.423423973 0.625
hCV16175379 rs2239657 hCV16124825 rs2109895 0.51 0.423423973 0.9664
hCV16175379 rs2239657 hCV16234795 rs2416804 0.51 0.423423973 0.6112
hCV16175379 rs2239657 hCV16234840 rs2416817 0.51 0.423423973 0.4418
hCV16175379 rs2239657 hCV1632195 rs1998505 0.51 0.423423973 0.4418
hCV16175379 rs2239657 hCV1761888 rs1953126 0.51 0.423423973 0.9341
hCV16175379 rs2239657 hCV1761891 rs1930778 0.51 0.423423973 0.9602
hCV16175379 rs2239657 hCV1761894 rs1609810 0.51 0.423423973 0.9609
hCV16175379 rs2239657 hCV2359565 rs1014530 0.51 0.423423973 0.6463
hCV16175379 rs2239657 hCV25751916 rs10985070 0.51 0.423423973 0.625
hCV16175379 rs2239657 hCV25771057 rs10760150 0.51 0.423423973
0.4418 hCV16175379 rs2239657 hCV2783582 rs10818482 0.51 0.423423973
0.625 hCV16175379 rs2239657 hCV2783586 rs2270231 0.51 0.423423973
0.9341 hCV16175379 rs2239657 hCV2783589 rs881375 0.51 0.423423973
0.9341 hCV16175379 rs2239657 hCV2783590 rs6478486 0.51 0.423423973
0.9341 hCV16175379 rs2239657 hCV2783591 rs1468671 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783593 rs1548783 0.51 0.423423973
0.966 hCV16175379 rs2239657 hCV2783597 rs1860824 0.51 0.423423973
0.9647 hCV16175379 rs2239657 hCV2783599 rs7046108 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783604 rs10760126 0.51 0.423423973
0.6641 hCV16175379 rs2239657 hCV2783607 rs9886724 0.51 0.423423973
0.6545 hCV16175379 rs2239657 hCV2783608 rs4836834 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783609 rs2241003 0.51 0.423423973
0.8997 hCV16175379 rs2239657 hCV2783611 rs10435843 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783618 rs2239658 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783620 rs7021880 0.51 0.423423973
0.8938 hCV16175379 rs2239657 hCV2783621 rs2416805 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783622 rs758959 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783625 rs10118357 0.51 0.423423973
0.6419 hCV16175379 rs2239657 hCV2783630 rs2269060 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783633 rs7021049 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783634 rs1014529 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783635 rs1930780 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783638 rs3761846 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783640 rs3761847 0.51 0.423423973
0.6112 hCV16175379 rs2239657 hCV2783641 rs2416806 0.51 0.423423973
0.9652 hCV16175379 rs2239657 hCV2783647 rs10739580 0.51 0.423423973
0.9664 hCV16175379 rs2239657 hCV2783650 rs10760129 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783653 rs10760130 0.51 0.423423973
0.6463 hCV16175379 rs2239657 hCV2783655 rs10818488 0.51 0.423423973
0.6463
hCV16175379 rs2239657 hCV2783656 rs4837804 0.51 0.423423973 0.8631
hCV16175379 rs2239657 hCV2783659 rs7039505 0.51 0.423423973 1
hCV16175379 rs2239657 hCV27912350 rs4837808 0.51 0.423423973 0.4418
hCV16175379 rs2239657 hCV27912351 rs4837809 0.51 0.423423973 0.4418
hCV16175379 rs2239657 hCV29005976 rs7037195 0.51 0.423423973 0.6463
hCV16175379 rs2239657 hCV29005978 rs7021206 0.51 0.423423973 0.9649
hCV16175379 rs2239657 hCV29006006 rs7034390 0.51 0.423423973 0.9341
hCV16175379 rs2239657 hCV30059070 rs10156413 0.51 0.423423973
0.4892 hCV16175379 rs2239657 hCV3045792 rs6478499 0.51 0.423423973
0.4586 hCV16175379 rs2239657 hCV30563729 rs9299273 0.51 0.423423973
0.4418 hCV16175379 rs2239657 hCV30830468 rs10818507 0.51
0.423423973 0.4248 hCV16175379 rs2239657 hCV30830473 rs7036649 0.51
0.423423973 0.4387 hCV16175379 rs2239657 hCV30830484 rs10818508
0.51 0.423423973 0.4418 hCV16175379 rs2239657 hCV30830486
rs10760149 0.51 0.423423973 0.4418 hCV16175379 rs2239657
hCV30830503 rs4837811 0.51 0.423423973 0.4418 hCV16175379 rs2239657
hCV30830638 rs10985073 0.51 0.423423973 0.625 hCV16175379 rs2239657
hCV30830725 rs7864019 0.51 0.423423973 0.9664 hCV16175379 rs2239657
hCV30830832 rs10733648 0.51 0.423423973 0.9664 hCV16175379
rs2239657 hCV30830909 rs11794516 0.51 0.423423973 0.625 hCV16175379
rs2239657 hCV7577287 rs1323478 0.51 0.423423973 0.4418 hCV16175379
rs2239657 hCV7577296 rs1407910 0.51 0.423423973 0.4418 hCV16175379
rs2239657 hCV7577344 rs876445 0.51 0.423423973 0.9664 hCV16234785
rs2416811 hCV11720383 rs1951784 0.51 0.852868152 0.9293 hCV16234785
rs2416811 hCV11720402 rs17611 0.51 0.852868152 1 hCV16234785
rs2416811 hCV15751718 rs2296078 0.51 0.852868152 0.8957 hCV16234785
rs2416811 hCV15755658 rs2300934 0.51 0.852868152 0.9646 hCV16234785
rs2416811 hCV1632190 rs10760146 0.51 0.852868152 0.9293 hCV16234785
rs2416811 hCV2359571 rs25681 0.51 0.852868152 1 hCV16234785
rs2416811 hCV25968825 rs10818504 0.51 0.852868152 0.9293
hCV16234785 rs2416811 hCV26144282 rs10818499 0.51 0.852868152 1
hCV16234785 rs2416811 hCV26144291 rs4570235 0.51 0.852868152 1
hCV16234785 rs2416811 hCV26144296 rs10760143 0.51 0.852868152
0.9279 hCV16234785 rs2416811 hCV27476319 rs3747843 0.51 0.852868152
0.8957 hCV16234785 rs2416811 hCV2783711 rs10733650 0.51 0.852868152
1 hCV16234785 rs2416811 hCV29005933 rs7042135 0.51 0.852868152
0.9646 hCV16234785 rs2416811 hCV29005936 rs6478498 0.51 0.852868152
0.9646 hCV16234785 rs2416811 hCV29734592 rs10435889 0.51
0.852868152 1 hCV16234785 rs2416811 hCV29824827 rs9657673 0.51
0.852868152 0.9251 hCV16234785 rs2416811 hCV30041036 rs10156476
0.51 0.852868152 0.9286 hCV16234785 rs2416811 hCV30167357 rs7022941
0.51 0.852868152 0.9642 hCV16234785 rs2416811 hCV3045797 rs7036541
0.51 0.852868152 0.9272 hCV16234785 rs2416811 hCV3045800 rs3736855
0.51 0.852868152 0.9293 hCV16234785 rs2416811 hCV3045808 rs10818516
0.51 0.852868152 0.8595 hCV16234785 rs2416811 hCV3045810 rs2209076
0.51 0.852868152 0.8635 hCV16234785 rs2416811 hCV30830340
rs10760134 0.51 0.852868152 0.8956 hCV16234785 rs2416811
hCV30830341 rs7040033 0.51 0.852868152 0.8956 hCV16234785 rs2416811
hCV30830415 rs7855998 0.51 0.852868152 0.9646 hCV16234785 rs2416811
hCV30830427 rs10760142 0.51 0.852868152 0.9646 hCV16234785
rs2416811 hCV30830440 rs10760144 0.51 0.852868152 0.9293
hCV16234785 rs2416811 hCV30830506 rs10760151 0.51 0.852868152
0.9293 hCV16234785 rs2416811 hCV30830537 rs10818515 0.51
0.852868152 0.8946 hCV16234785 rs2416811 hCV30830539 rs10760153
0.51 0.852868152 0.9287 hCV16234785 rs2416811 hCV30830540
rs10760154 0.51 0.852868152 0.8956 hCV16234785 rs2416811
hCV30830541 rs10760155 0.51 0.852868152 0.8957 hCV16234785
rs2416811 hCV30830542 rs10760156 0.51 0.852868152 0.8894
hCV16234785 rs2416811 hCV7577235 rs1052508 0.51 0.852868152 0.8957
hCV16234785 rs2416811 hCV7577248 rs1359086 0.51 0.852868152 0.8635
hCV16234785 rs2416811 hCV7577249 rs1359085 0.51 0.852868152 0.8957
hCV16234785 rs2416811 hCV7577337 rs993247 0.51 0.852868152 1
hCV16234795 rs2416804 hCV11266229 rs10435844 0.51 0.321177244
0.6341 hCV16234795 rs2416804 hCV11266268 rs10760121 0.51
0.321177244 0.6014 hCV16234795 rs2416804 hCV11720351 rs1885995 0.51
0.321177244 0.4991 hCV16234795 rs2416804 hCV11720402 rs17611 0.51
0.321177244 0.3592 hCV16234795 rs2416804 hCV11720413 rs1930782 0.51
0.321177244 0.9672 hCV16234795 rs2416804 hCV11720414 rs1930781 0.51
0.321177244 0.6341 hCV16234795 rs2416804 hCV1452630 rs10818476 0.51
0.321177244 0.3275 hCV16234795 rs2416804 hCV1452665 rs4837796 0.51
0.321177244 0.3275 hCV16234795 rs2416804 hCV15751717 rs2296077 0.51
0.321177244 0.4385 hCV16234795 rs2416804 hCV15751719 rs2146838 0.51
0.321177244 0.4991 hCV16234795 rs2416804 hCV15755658 rs2300934 0.51
0.321177244 0.3423 hCV16234795 rs2416804 hCV15757738 rs2302498 0.51
0.321177244 0.4513 hCV16234795 rs2416804 hCV15849116 rs2900180 0.51
0.321177244 0.6181 hCV16234795 rs2416804 hCV15870898 rs2072438 0.51
0.321177244 0.9353 hCV16234795 rs2416804 hCV16124825 rs2109895 0.51
0.321177244 0.6341 hCV16234795 rs2416804 hCV16175379 rs2239657 0.51
0.321177244 0.6112 hCV16234795 rs2416804 hCV16234785 rs2416811 0.51
0.321177244 0.3592 hCV16234795 rs2416804 hCV1761881 rs3933326 0.51
0.321177244 0.3407 hCV16234795 rs2416804 hCV1761888 rs1953126 0.51
0.321177244 0.6014 hCV16234795 rs2416804 hCV1761891 rs1930778 0.51
0.321177244 0.5354 hCV16234795 rs2416804 hCV1761894 rs1609810 0.51
0.321177244 0.6068 hCV16234795 rs2416804 hCV22272588 rs10760117
0.51 0.321177244 0.3275 hCV16234795 rs2416804 hCV2359565 rs1014530
0.51 0.321177244 0.9672 hCV16234795 rs2416804 hCV2359571 rs25681
0.51 0.321177244 0.3592 hCV16234795 rs2416804 hCV25751916
rs10985070 0.51 0.321177244 0.9353 hCV16234795 rs2416804
hCV25757804 rs4836833 0.51 0.321177244 0.3234 hCV16234795 rs2416804
hCV26144282 rs10818499 0.51 0.321177244 0.3592 hCV16234795
rs2416804 hCV26144291 rs4570235 0.51 0.321177244 0.3592 hCV16234795
rs2416804 hCV26144307 rs1016468 0.51 0.321177244 0.4991 hCV16234795
rs2416804 hCV26144332 rs4837813 0.51 0.321177244 0.476 hCV16234795
rs2416804 hCV2783582 rs10818482 0.51 0.321177244 0.9353 hCV16234795
rs2416804 hCV2783586 rs2270231 0.51 0.321177244 0.6014 hCV16234795
rs2416804 hCV2783589 rs881375 0.51 0.321177244 0.6014 hCV16234795
rs2416804 hCV2783590 rs6478486 0.51 0.321177244 0.6014 hCV16234795
rs2416804 hCV2783591 rs1468671 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783593 rs1548783 0.51 0.321177244 0.6289 hCV16234795
rs2416804 hCV2783597 rs1860824 0.51 0.321177244 0.6215 hCV16234795
rs2416804 hCV2783599 rs7046108 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783604 rs10760126 0.51 0.321177244 0.9666 hCV16234795
rs2416804 hCV2783607 rs9886724 0.51 0.321177244 0.9655 hCV16234795
rs2416804 hCV2783608 rs4836834 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783609 rs2241003 0.51 0.321177244 0.6714 hCV16234795
rs2416804 hCV2783611 rs10435843 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783618 rs2239658 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783620 rs7021880 0.51 0.321177244 0.5724 hCV16234795
rs2416804 hCV2783621 rs2416805 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783622 rs758959 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783625 rs10118357 0.51 0.321177244 0.9666 hCV16234795
rs2416804 hCV2783630 rs2269060 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783633 rs7021049 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783634 rs1014529 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783635 rs1930780 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783638 rs3761846 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783640 rs3761847 0.51 0.321177244 0.9341 hCV16234795
rs2416804 hCV2783641 rs2416806 0.51 0.321177244 0.6235 hCV16234795
rs2416804 hCV2783647 rs10739580 0.51 0.321177244 0.6341 hCV16234795
rs2416804 hCV2783650 rs10760129 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783653 rs10760130 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783655 rs10818488 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV2783656 rs4837804 0.51 0.321177244 0.7379 hCV16234795
rs2416804 hCV2783659 rs7039505 0.51 0.321177244 0.6146 hCV16234795
rs2416804 hCV2783711 rs10733650 0.51 0.321177244 0.3571 hCV16234795
rs2416804 hCV2783718 rs10818500 0.51 0.321177244 0.6979 hCV16234795
rs2416804 hCV29005933 rs7042135 0.51 0.321177244 0.3423 hCV16234795
rs2416804 hCV29005936 rs6478498 0.51 0.321177244 0.3423 hCV16234795
rs2416804 hCV29005955 rs7036980 0.51 0.321177244 0.4285 hCV16234795
rs2416804 hCV29005976 rs7037195 0.51 0.321177244 0.9672 hCV16234795
rs2416804 hCV29005978 rs7021206 0.51 0.321177244 0.6666 hCV16234795
rs2416804 hCV29006006 rs7034390 0.51 0.321177244 0.6014 hCV16234795
rs2416804 hCV29734592 rs10435889 0.51 0.321177244 0.3475
hCV16234795 rs2416804 hCV29879049 rs9792437 0.51 0.321177244 0.4729
hCV16234795 rs2416804 hCV30167357 rs7022941 0.51 0.321177244 0.3336
hCV16234795 rs2416804 hCV3045812 rs7030849 0.51 0.321177244 0.4729
hCV16234795 rs2416804 hCV30830319 rs7037673 0.51 0.321177244 0.4992
hCV16234795 rs2416804 hCV30830325 rs10818494 0.51 0.321177244
0.4528 hCV16234795 rs2416804 hCV30830340 rs10760134 0.51
0.321177244 0.4257 hCV16234795 rs2416804 hCV30830341 rs7040033 0.51
0.321177244 0.4257 hCV16234795 rs2416804 hCV30830415 rs7855998 0.51
0.321177244 0.3423 hCV16234795 rs2416804 hCV30830419 rs10985140
0.51 0.321177244 0.6604 hCV16234795 rs2416804 hCV30830427
rs10760142 0.51 0.321177244 0.3423 hCV16234795 rs2416804
hCV30830474 rs10739590 0.51 0.321177244 0.5503 hCV16234795
rs2416804 hCV30830638 rs10985073 0.51 0.321177244 0.9353
hCV16234795 rs2416804 hCV30830725 rs7864019 0.51 0.321177244 0.6341
hCV16234795 rs2416804 hCV30830832 rs10733648 0.51 0.321177244
0.6341 hCV16234795 rs2416804 hCV30830909 rs11794516 0.51
0.321177244 0.9353 hCV16234795 rs2416804 hCV7577254 rs942152 0.51
0.321177244 0.4043 hCV16234795 rs2416804 hCV7577317 rs1323472 0.51
0.321177244 0.6889 hCV16234795 rs2416804 hCV7577331 rs1468673 0.51
0.321177244 0.6889 hCV16234795 rs2416804 hCV7577337 rs993247 0.51
0.321177244 0.3592 hCV16234795 rs2416804 hCV7577344 rs876445 0.51
0.321177244 0.6341 hCV16234795 rs2416804 hCV782875 rs746182 0.51
0.321177244 0.476 hCV16234795 rs2416804 hCV8780517 rs1056567 0.51
0.321177244 0.3234 hCV1632190 rs10760146 hCV11720383 rs1951784 0.51
0.849855381 1 hCV1632190 rs10760146 hCV11720402 rs17611 0.51
0.849855381 0.9293 hCV1632190 rs10760146 hCV15751718 rs2296078 0.51
0.849855381 0.9649 hCV1632190 rs10760146 hCV15755658 rs2300934 0.51
0.849855381 0.8947 hCV1632190 rs10760146 hCV16234785 rs2416811 0.51
0.849855381 0.9293 hCV1632190 rs10760146 hCV2359571 rs25681 0.51
0.849855381 0.9293 hCV1632190 rs10760146 hCV25968825 rs10818504
0.51 0.849855381 1 hCV1632190 rs10760146 hCV26144282 rs10818499
0.51 0.849855381 0.9293 hCV1632190 rs10760146 hCV26144291 rs4570235
0.51 0.849855381 0.9293 hCV1632190 rs10760146 hCV26144296
rs10760143 0.51 0.849855381 1 hCV1632190 rs10760146 hCV27476319
rs3747843 0.51 0.849855381 0.9649 hCV1632190 rs10760146 hCV2783711
rs10733650 0.51 0.849855381 0.9293 hCV1632190 rs10760146
hCV29005933 rs7042135 0.51 0.849855381 0.8947 hCV1632190 rs10760146
hCV29005936 rs6478498 0.51 0.849855381 0.8947 hCV1632190 rs10760146
hCV29734592 rs10435889 0.51 0.849855381 0.9272 hCV1632190
rs10760146 hCV29824827 rs9657673 0.51 0.849855381 1 hCV1632190
rs10760146 hCV30041036 rs10156476 0.51 0.849855381 1 hCV1632190
rs10760146 hCV30167357 rs7022941 0.51 0.849855381 1 hCV1632190
rs10760146 hCV3045797 rs7036541 0.51 0.849855381 1 hCV1632190
rs10760146 hCV3045800 rs3736855 0.51 0.849855381 1 hCV1632190
rs10760146 hCV3045804 rs2057467 0.51 0.849855381 0.9484 hCV1632190
rs10760146 hCV3045808 rs10818516 0.51 0.849855381 0.9294 hCV1632190
rs10760146 hCV3045810 rs2209076 0.51 0.849855381 0.9314 hCV1632190
rs10760146 hCV30830415 rs7855998 0.51 0.849855381 0.8947 hCV1632190
rs10760146 hCV30830427 rs10760142 0.51 0.849855381 0.8947
hCV1632190 rs10760146 hCV30830440 rs10760144 0.51 0.849855381 1
hCV1632190 rs10760146 hCV30830506 rs10760151 0.51 0.849855381 1
hCV1632190 rs10760146 hCV30830537 rs10818515 0.51 0.849855381
0.9646 hCV1632190 rs10760146 hCV30830539 rs10760153 0.51
0.849855381 0.9642 hCV1632190 rs10760146 hCV30830540 rs10760154
0.51 0.849855381 0.9649 hCV1632190 rs10760146 hCV30830541
rs10760155 0.51 0.849855381 0.9649 hCV1632190 rs10760146
hCV30830542 rs10760156 0.51 0.849855381 0.9628 hCV1632190
rs10760146 hCV7577235 rs1052508 0.51 0.849855381 0.9649 hCV1632190
rs10760146 hCV7577248 rs1359086 0.51 0.849855381 0.9314 hCV1632190
rs10760146 hCV7577249 rs1359085 0.51 0.849855381 0.9649 hCV1632190
rs10760146 hCV7577337 rs993247 0.51 0.849855381 0.9293 hCV1761888
rs1953126 hCV11266229 rs10435844 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV11266268 rs10760121 0.51 0.531539009 1 hCV1761888
rs1953126 hCV11720413 rs1930782 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV11720414 rs1930781 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV15849116 rs2900180 0.51 0.531539009 0.9622 hCV1761888
rs1953126 hCV15870898 rs2072438 0.51 0.531539009 0.6691 hCV1761888
rs1953126 hCV16124825 rs2109895 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV16175379 rs2239657 0.51 0.531539009 0.9341 hCV1761888
rs1953126 hCV16234795 rs2416804 0.51 0.531539009 0.6014 hCV1761888
rs1953126 hCV1761891 rs1930778 0.51 0.531539009 1 hCV1761888
rs1953126 hCV1761894 rs1609810 0.51 0.531539009 1 hCV1761888
rs1953126 hCV2359565 rs1014530 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV25751916 rs10985070 0.51 0.531539009 0.6691 hCV1761888
rs1953126 hCV2783582 rs10818482 0.51 0.531539009 0.6691 hCV1761888
rs1953126 hCV2783586 rs2270231 0.51 0.531539009 1 hCV1761888
rs1953126 hCV2783589 rs881375 0.51 0.531539009 1 hCV1761888
rs1953126 hCV2783590 rs6478486 0.51 0.531539009 1 hCV1761888
rs1953126 hCV2783591 rs1468671 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783593 rs1548783 0.51 0.531539009 0.9661 hCV1761888
rs1953126 hCV2783597 rs1860824 0.51 0.531539009 0.965 hCV1761888
rs1953126 hCV2783599 rs7046108 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783604 rs10760126 0.51 0.531539009 0.6526 hCV1761888
rs1953126 hCV2783607 rs9886724 0.51 0.531539009 0.6785 hCV1761888
rs1953126 hCV2783608 rs4836834 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783609 rs2241003 0.51 0.531539009 0.9321 hCV1761888
rs1953126 hCV2783611 rs10435843 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783618 rs2239658 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783620 rs7021880 0.51 0.531539009 0.8974 hCV1761888
rs1953126 hCV2783621 rs2416805 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783622 rs758959 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783625 rs10118357 0.51 0.531539009 0.6295 hCV1761888
rs1953126 hCV2783630 rs2269060 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783633 rs7021049 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783634 rs1014529 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783635 rs1930780 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783638 rs3761846 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783640 rs3761847 0.51 0.531539009 0.6014 hCV1761888
rs1953126 hCV2783641 rs2416806 0.51 0.531539009 1 hCV1761888
rs1953126 hCV2783647 rs10739580 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV2783650 rs10760129 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783653 rs10760130 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783655 rs10818488 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV2783656 rs4837804 0.51 0.531539009 0.8593 hCV1761888
rs1953126 hCV2783659 rs7039505 0.51 0.531539009 0.9615 hCV1761888
rs1953126 hCV29005976 rs7037195 0.51 0.531539009 0.6344 hCV1761888
rs1953126 hCV29005978 rs7021206 0.51 0.531539009 0.9651 hCV1761888
rs1953126 hCV29006006 rs7034390 0.51 0.531539009 1 hCV1761888
rs1953126 hCV30059070 rs10156413 0.51 0.531539009 0.5621 hCV1761888
rs1953126 hCV30830638 rs10985073 0.51 0.531539009 0.6691 hCV1761888
rs1953126 hCV30830725 rs7864019 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV30830832 rs10733648 0.51 0.531539009 0.9666 hCV1761888
rs1953126 hCV30830909 rs11794516 0.51 0.531539009 0.6691 hCV1761888
rs1953126 hCV7577344 rs876445 0.51 0.531539009 0.9666 hCV1761894
rs1609810 hCV11266229 rs10435844 0.51 0.449770851 0.9609 hCV1761894
rs1609810 hCV11266268 rs10760121 0.51 0.449770851 1 hCV1761894
rs1609810 hCV11720350 rs2057469 0.51 0.449770851 0.5389 hCV1761894
rs1609810 hCV11720386 rs1998506 0.51 0.449770851 0.5059 hCV1761894
rs1609810 hCV11720394 rs1924081 0.51 0.449770851 0.4793 hCV1761894
rs1609810 hCV11720413 rs1930782 0.51 0.449770851 0.6068 hCV1761894
rs1609810 hCV11720414 rs1930781 0.51 0.449770851 0.9609 hCV1761894
rs1609810 hCV15849105 rs2900185 0.51 0.449770851 0.5717 hCV1761894
rs1609810 hCV15849116 rs2900180 0.51 0.449770851 0.9559 hCV1761894
rs1609810 hCV15870898 rs2072438 0.51 0.449770851 0.6485 hCV1761894
rs1609810 hCV16124825 rs2109895 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV16175379 rs2239657 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV16180474 rs2273988 0.51 0.449770851 0.4757
hCV1761894 rs1609810 hCV16234795 rs2416804 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV16234838 rs2416819 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV16234840 rs2416817 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV1632195 rs1998505 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV1632205 rs10818509 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV1761888 rs1953126 0.51 0.449770851 1
hCV1761894 rs1609810 hCV1761891 rs1930778 0.51 0.449770851 1
hCV1761894 rs1609810 hCV2359565 rs1014530 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV25472748 rs10760138 0.51 0.449770851 0.4707
hCV1761894 rs1609810 hCV25613469 rs10760157 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV25746749 rs7023214 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV25751916 rs10985070 0.51 0.449770851 0.6485
hCV1761894 rs1609810 hCV25771057 rs10760150 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV25969661 rs10818503 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV26144328 rs4836841 0.51 0.449770851 0.4757
hCV1761894 rs1609810 hCV2783582 rs10818482 0.51 0.449770851 0.6485
hCV1761894 rs1609810 hCV2783586 rs2270231 0.51 0.449770851 1
hCV1761894 rs1609810 hCV2783589 rs881375 0.51 0.449770851 1
hCV1761894 rs1609810 hCV2783590 rs6478486 0.51 0.449770851 1
hCV1761894 rs1609810 hCV2783591 rs1468671 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783593 rs1548783 0.51 0.449770851 0.9603
hCV1761894 rs1609810 hCV2783597 rs1860824 0.51 0.449770851 0.9588
hCV1761894 rs1609810 hCV2783599 rs7046108 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783604 rs10760126 0.51 0.449770851 0.6271
hCV1761894 rs1609810 hCV2783607 rs9886724 0.51 0.449770851 0.6581
hCV1761894 rs1609810 hCV2783608 rs4836834 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783609 rs2241003 0.51 0.449770851 0.9205
hCV1761894 rs1609810 hCV2783611 rs10435843 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783618 rs2239658 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783620 rs7021880 0.51 0.449770851 0.8797
hCV1761894 rs1609810 hCV2783621 rs2416805 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783622 rs758959 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783625 rs10118357 0.51 0.449770851 0.6003
hCV1761894 rs1609810 hCV2783630 rs2269060 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783633 rs7021049 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783634 rs1014529 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783635 rs1930780 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783638 rs3761846 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783640 rs3761847 0.51 0.449770851 0.5676
hCV1761894 rs1609810 hCV2783641 rs2416806 0.51 0.449770851 1
hCV1761894 rs1609810 hCV2783647 rs10739580 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV2783650 rs10760129 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783653 rs10760130 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783655 rs10818488 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV2783656 rs4837804 0.51 0.449770851 0.8728
hCV1761894 rs1609810 hCV2783659 rs7039505 0.51 0.449770851 0.9563
hCV1761894 rs1609810 hCV27912350 rs4837808 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV27912351 rs4837809 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV29005922 rs7033790 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV29005923 rs6478494 0.51 0.449770851 0.4707
hCV1761894 rs1609810 hCV29005924 rs7031128 0.51 0.449770851 0.5015
hCV1761894 rs1609810 hCV29005931 rs6478496 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV29005938 rs7856420 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV29005976 rs7037195 0.51 0.449770851 0.6068
hCV1761894 rs1609810 hCV29005978 rs7021206 0.51 0.449770851 0.9588
hCV1761894 rs1609810 hCV29006006 rs7034390 0.51 0.449770851 1
hCV1761894 rs1609810 hCV30059070 rs10156413 0.51 0.449770851 0.6789
hCV1761894 rs1609810 hCV30293181 rs10081760 0.51 0.449770851 0.5042
hCV1761894 rs1609810 hCV3045792 rs6478499 0.51 0.449770851 0.5955
hCV1761894 rs1609810 hCV3045801 rs2057465 0.51 0.449770851 0.5261
hCV1761894 rs1609810 hCV3045802 rs2057466 0.51 0.449770851 0.4757
hCV1761894 rs1609810 hCV3045803 rs2146836 0.51 0.449770851 0.4757
hCV1761894 rs1609810 hCV30527383 rs9644911 0.51 0.449770851 0.4667
hCV1761894 rs1609810 hCV30563728 rs10156396 0.51 0.449770851 0.4753
hCV1761894 rs1609810 hCV30563729 rs9299273 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV30830342 rs7040319 0.51 0.449770851 0.4529
hCV1761894 rs1609810 hCV30830395 rs10985132 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV30830397 rs10760139 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV30830406 rs7040603 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV30830407 rs10739585 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV30830414 rs7871371 0.51 0.449770851 0.4949
hCV1761894 rs1609810 hCV30830417 rs7029523 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV30830435 rs10739586 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV30830458 rs10733651 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV30830468 rs10818507 0.51 0.449770851 0.5876
hCV1761894 rs1609810 hCV30830473 rs7036649 0.51 0.449770851 0.5901
hCV1761894 rs1609810 hCV30830475 rs10733652 0.51 0.449770851 0.5508
hCV1761894 rs1609810 hCV30830484 rs10818508 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV30830486 rs10760149 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV30830503 rs4837811 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV30830512 rs10818512 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV30830521 rs10818513 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV30830536 rs7047038 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV30830538 rs10760152 0.51 0.449770851 0.4679
hCV1761894 rs1609810 hCV30830638 rs10985073 0.51 0.449770851 0.6485
hCV1761894 rs1609810 hCV30830725 rs7864019 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV30830832 rs10733648 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV30830909 rs11794516 0.51 0.449770851 0.6485
hCV1761894 rs1609810 hCV7577250 rs942153 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV7577271 rs1535655 0.51 0.449770851 0.5389
hCV1761894 rs1609810 hCV7577286 rs1407912 0.51 0.449770851 0.5059
hCV1761894 rs1609810 hCV7577287 rs1323478 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV7577296 rs1407910 0.51 0.449770851 0.5717
hCV1761894 rs1609810 hCV7577311 rs1323473 0.51 0.449770851 0.4864
hCV1761894 rs1609810 hCV7577328 rs1323476 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV7577332 rs1468672 0.51 0.449770851 0.4793
hCV1761894 rs1609810 hCV7577344 rs876445 0.51 0.449770851 0.9609
hCV1761894 rs1609810 hCV782872 rs758958 0.51 0.449770851 0.4793
hCV1917481 rs10760112 hCV11297574 rs10760113 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1452630 rs10818476 0.51 0.449378359 0.4938
hCV1917481 rs10760112 hCV1452651 rs3793638 0.51 0.449378359 0.5136
hCV1917481 rs10760112 hCV1452652 rs1060817 0.51 0.449378359 0.5136
hCV1917481 rs10760112 hCV1452665 rs4837796 0.51 0.449378359 0.4938
hCV1917481 rs10760112 hCV15849071 rs2900177 0.51 0.449378359 0.9558
hCV1917481 rs10760112 hCV1917479 rs10984994 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV1917497 rs10491784 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1917498 rs920745 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1917499 rs1867254 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1917500 rs4837789 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1917502 rs10984974 0.51 0.449378359 1
hCV1917481 rs10760112 hCV1917505 rs10760110 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV1917506 rs10984972 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV22272588 rs10760117 0.51 0.449378359
0.4938 hCV1917481 rs10760112 hCV25758615 rs7849566 0.51 0.449378359
1 hCV1917481 rs10760112 hCV26144235 rs1886337 0.51 0.449378359 1
hCV1917481 rs10760112 hCV26144244 rs4837792 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV26144245 rs4837793 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV26144246 rs4836830 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV27912345 rs4142158 0.51 0.449378359 0.9632
hCV1917481 rs10760112 hCV29005915 rs7044106 0.51 0.449378359 0.7043
hCV1917481 rs10760112 hCV30419540 rs10491783 0.51 0.449378359 1
hCV1917481 rs10760112 hCV30829523 rs12343516 0.51 0.449378359
0.5136 hCV1917481 rs10760112 hCV30830175 rs10739569 0.51
0.449378359 0.7841 hCV1917481 rs10760112 hCV30830228 rs7024046 0.51
0.449378359 1 hCV1917481 rs10760112 hCV30830259 rs7044226 0.51
0.449378359 1 hCV1917481 rs10760112 hCV30830283 rs10818474 0.51
0.449378359 0.6426 hCV1917481 rs10760112 hCV30830295 rs7033339 0.51
0.449378359 0.79 hCV1917481 rs10760112 hCV3121925 rs4836831 0.51
0.449378359 0.9621 hCV1917481 rs10760112 hCV3121928 rs10985009 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121936 rs735110 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121937 rs735109 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121938 rs747819 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121944 rs2416799 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121945 rs4617229 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121960 rs966397 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121961 rs966396 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121962 rs4837790 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121966 rs1158553 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121967 rs1158554 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121972 rs7357638 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121975 rs1981021 0.51
0.449378359 1 hCV1917481 rs10760112 hCV3121979 rs3903886 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121981 rs10739570 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV3121982 rs7861679 0.51
0.449378359 0.8916 hCV1917481 rs10760112 hCV3121983 rs2416760 0.51
0.449378359 0.8916 hCV1917481 rs10760112 hCV3121984 rs991121 0.51
0.449378359 0.8904 hCV1917481 rs10760112 hCV3121985 rs959558 0.51
0.449378359 0.8916 hCV1917481 rs10760112 hCV3121987 rs10616 0.51
0.449378359 0.82 hCV1917481 rs10760112 hCV3121993 rs7042649 0.51
0.449378359 0.5072 hCV1917481 rs10760112 hCV7577356 rs1530370 0.51
0.449378359 1 hCV1917481 rs10760112 hCV7577357 rs1547267 0.51
0.449378359 0.9632 hCV1917481 rs10760112 hCV7577359 rs1324473 0.51
0.449378359 1 hCV1917481 rs10760112 hCV7577376 rs1359329 0.51
0.449378359 0.509 hCV1917481 rs10760112 hCV7577377 rs1359328 0.51
0.449378359 0.7201 hCV22272588 rs10760117 hCV11266229 rs10435844
0.51 0.29326589 0.3629 hCV22272588 rs10760117 hCV11266268
rs10760121 0.51 0.29326589 0.3842 hCV22272588 rs10760117
hCV11297574 rs10760113 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV11720413 rs1930782 0.51 0.29326589 0.3495 hCV22272588
rs10760117 hCV11720414 rs1930781 0.51 0.29326589 0.3629 hCV22272588
rs10760117 hCV1452630 rs10818476 0.51 0.29326589 1 hCV22272588
rs10760117 hCV1452651 rs3793638 0.51 0.29326589 0.9672 hCV22272588
rs10760117 hCV1452652 rs1060817 0.51 0.29326589 0.9672 hCV22272588
rs10760117 hCV1452665 rs4837796 0.51 0.29326589 1 hCV22272588
rs10760117 hCV15849071 rs2900177 0.51 0.29326589 0.51 hCV22272588
rs10760117 hCV15849116 rs2900180 0.51 0.29326589 0.3765 hCV22272588
rs10760117 hCV15870898 rs2072438 0.51 0.29326589 0.3756 hCV22272588
rs10760117 hCV16124825 rs2109895 0.51 0.29326589 0.3629 hCV22272588
rs10760117 hCV16175379 rs2239657 0.51 0.29326589 0.3395 hCV22272588
rs10760117 hCV16234795 rs2416804 0.51 0.29326589 0.3275 hCV22272588
rs10760117 hCV16234804 rs2416800 0.51 0.29326589 0.7916 hCV22272588
rs10760117 hCV1761881 rs3933326 0.51 0.29326589 0.5095 hCV22272588
rs10760117 hCV1761888 rs1953126 0.51 0.29326589 0.3842 hCV22272588
rs10760117 hCV1761891 rs1930778 0.51 0.29326589 0.3302 hCV22272588
rs10760117 hCV1761894 rs1609810 0.51 0.29326589 0.3612 hCV22272588
rs10760117 hCV1917479 rs10984994 0.51 0.29326589 0.4997 hCV22272588
rs10760117 hCV1917481 rs10760112 0.51 0.29326589 0.4938 hCV22272588
rs10760117 hCV1917497 rs10491784 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV1917498 rs920745 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV1917499 rs1867254 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV1917500 rs4837789 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV1917502 rs10984974 0.51 0.29326589 0.4666 hCV22272588
rs10760117 hCV1917505 rs10760110 0.51 0.29326589 0.4475 hCV22272588
rs10760117 hCV1917506 rs10984972 0.51 0.29326589 0.4475 hCV22272588
rs10760117 hCV2359565 rs1014530 0.51 0.29326589 0.3495 hCV22272588
rs10760117 hCV25612709 rs7026635 0.51 0.29326589 0.5345 hCV22272588
rs10760117 hCV25751916 rs10985070 0.51 0.29326589 0.3756
hCV22272588 rs10760117 hCV25757804 rs4836833 0.51 0.29326589 0.4886
hCV22272588 rs10760117 hCV25758615 rs7849566 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV26144018 rs10739575 0.51 0.29326589
0.3407 hCV22272588 rs10760117 hCV26144235 rs1886337 0.51 0.29326589
0.4666 hCV22272588 rs10760117 hCV26144244 rs4837792 0.51 0.29326589
0.4997 hCV22272588 rs10760117 hCV26144245 rs4837793 0.51 0.29326589
0.4997 hCV22272588 rs10760117 hCV26144246 rs4836830 0.51 0.29326589
0.4997 hCV22272588 rs10760117 hCV2783582 rs10818482 0.51 0.29326589
0.3756 hCV22272588 rs10760117 hCV2783586 rs2270231 0.51 0.29326589
0.3842 hCV22272588 rs10760117 hCV2783589 rs881375 0.51 0.29326589
0.3842 hCV22272588 rs10760117 hCV2783590 rs6478486 0.51 0.29326589
0.3842 hCV22272588 rs10760117 hCV2783591 rs1468671 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783593 rs1548783 0.51 0.29326589
0.3754 hCV22272588 rs10760117 hCV2783597 rs1860824 0.51 0.29326589
0.3376 hCV22272588 rs10760117 hCV2783599 rs7046108 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783604 rs10760126 0.51 0.29326589
0.362 hCV22272588 rs10760117 hCV2783607 rs9886724 0.51 0.29326589
0.3695 hCV22272588 rs10760117 hCV2783608 rs4836834 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783609 rs2241003 0.51 0.29326589
0.406 hCV22272588 rs10760117 hCV2783611 rs10435843 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783618 rs2239658 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783620 rs7021880 0.51 0.29326589
0.3276 hCV22272588 rs10760117 hCV2783621 rs2416805 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783622 rs758959 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783625 rs10118357 0.51 0.29326589
0.3662 hCV22272588 rs10760117 hCV2783630 rs2269060 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783633 rs7021049 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783634 rs1014529 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783635 rs1930780 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783638 rs3761846 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783640 rs3761847 0.51 0.29326589
0.3275 hCV22272588 rs10760117 hCV2783641 rs2416806 0.51 0.29326589
0.3646 hCV22272588 rs10760117 hCV2783647 rs10739580 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV2783650 rs10760129 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783653 rs10760130 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783655 rs10818488 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV2783656 rs4837804 0.51 0.29326589
0.3051 hCV22272588 rs10760117 hCV2783659 rs7039505 0.51 0.29326589
0.3838 hCV22272588 rs10760117 hCV27912345 rs4142158 0.51 0.29326589
0.4475 hCV22272588 rs10760117 hCV29005915 rs7044106 0.51 0.29326589
0.3396 hCV22272588 rs10760117 hCV29005976 rs7037195 0.51 0.29326589
0.3495 hCV22272588 rs10760117 hCV29005978 rs7021206 0.51 0.29326589
0.3583 hCV22272588 rs10760117 hCV29006006 rs7034390 0.51 0.29326589
0.3842 hCV22272588 rs10760117 hCV30419540 rs10491783 0.51
0.29326589 0.4666 hCV22272588 rs10760117 hCV30829523 rs12343516
0.51 0.29326589 0.9672 hCV22272588 rs10760117 hCV30830175
rs10739569 0.51 0.29326589 0.3535 hCV22272588 rs10760117
hCV30830228 rs7024046 0.51 0.29326589 0.4666 hCV22272588 rs10760117
hCV30830259 rs7044226 0.51 0.29326589 0.5063 hCV22272588 rs10760117
hCV30830283 rs10818474 0.51 0.29326589 0.3723 hCV22272588
rs10760117 hCV30830295 rs7033339 0.51 0.29326589 0.4533 hCV22272588
rs10760117 hCV30830638 rs10985073 0.51 0.29326589 0.3756
hCV22272588 rs10760117 hCV30830725 rs7864019 0.51 0.29326589 0.3629
hCV22272588 rs10760117 hCV30830832 rs10733648 0.51 0.29326589
0.3629 hCV22272588 rs10760117 hCV30830909 rs11794516 0.51
0.29326589 0.3756 hCV22272588 rs10760117 hCV3121925 rs4836831 0.51
0.29326589 0.4882 hCV22272588 rs10760117 hCV3121928 rs10985009 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121936 rs735110 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121937 rs735109 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121938 rs747819 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121944 rs2416799 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121945 rs4617229 0.51
0.29326589 0.4997 hCV22272588 rs10760117 hCV3121960 rs966397 0.51
0.29326589 0.4666 hCV22272588 rs10760117 hCV3121961 rs966396 0.51
0.29326589 0.4666
hCV22272588 rs10760117 hCV3121962 rs4837790 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV3121966 rs1158553 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV3121967 rs1158554 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV3121972 rs7357638 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV3121975 rs1981021 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV3121979 rs3903886 0.51 0.29326589 0.4457
hCV22272588 rs10760117 hCV3121981 rs10739570 0.51 0.29326589 0.4457
hCV22272588 rs10760117 hCV3121982 rs7861679 0.51 0.29326589 0.3854
hCV22272588 rs10760117 hCV3121983 rs2416760 0.51 0.29326589 0.3854
hCV22272588 rs10760117 hCV3121984 rs991121 0.51 0.29326589 0.3774
hCV22272588 rs10760117 hCV3121985 rs959558 0.51 0.29326589 0.3854
hCV22272588 rs10760117 hCV3121987 rs10616 0.51 0.29326589 0.3448
hCV22272588 rs10760117 hCV3121993 rs7042649 0.51 0.29326589 0.3817
hCV22272588 rs10760117 hCV7577344 rs876445 0.51 0.29326589 0.3629
hCV22272588 rs10760117 hCV7577356 rs1530370 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV7577357 rs1547267 0.51 0.29326589 0.4475
hCV22272588 rs10760117 hCV7577359 rs1324473 0.51 0.29326589 0.4666
hCV22272588 rs10760117 hCV7577377 rs1359328 0.51 0.29326589 0.2949
hCV22272588 rs10760117 hCV8780517 rs1056567 0.51 0.29326589 0.4886
hCV22272588 rs10760117 hCV8780961 rs914842 0.51 0.29326589 0.3563
hCV22272588 rs10760117 hCV8780962 rs1837 0.51 0.29326589 0.4622
hCV25612709 rs7026635 hCV1761881 rs3933326 0.51 0.604602471 0.7321
hCV25612709 rs7026635 hCV25757804 rs4836833 0.51 0.604602471 0.7608
hCV25612709 rs7026635 hCV26144018 rs10739575 0.51 0.604602471
0.6374 hCV25612709 rs7026635 hCV8780517 rs1056567 0.51 0.604602471
0.7608 hCV25612709 rs7026635 hCV8780961 rs914842 0.51 0.604602471
0.6667 hCV25612709 rs7026635 hCV8780962 rs1837 0.51 0.604602471
0.8902 hCV25751916 rs10985070 hCV11266229 rs10435844 0.51
0.348238045 0.6467 hCV25751916 rs10985070 hCV11266268 rs10760121
0.51 0.348238045 0.6691 hCV25751916 rs10985070 hCV11720351
rs1885995 0.51 0.348238045 0.4963 hCV25751916 rs10985070
hCV11720413 rs1930782 0.51 0.348238045 0.9671 hCV25751916
rs10985070 hCV11720414 rs1930781 0.51 0.348238045 0.6467
hCV25751916 rs10985070 hCV1452630 rs10818476 0.51 0.348238045
0.3756 hCV25751916 rs10985070 hCV1452651 rs3793638 0.51 0.348238045
0.3542 hCV25751916 rs10985070 hCV1452652 rs1060817 0.51 0.348238045
0.3542 hCV25751916 rs10985070 hCV1452665 rs4837796 0.51 0.348238045
0.3756 hCV25751916 rs10985070 hCV15751717 rs2296077 0.51
0.348238045 0.4374 hCV25751916 rs10985070 hCV15751719 rs2146838
0.51 0.348238045 0.4963 hCV25751916 rs10985070 hCV15757738
rs2302498 0.51 0.348238045 0.4505 hCV25751916 rs10985070
hCV15849116 rs2900180 0.51 0.348238045 0.6342 hCV25751916
rs10985070 hCV15870898 rs2072438 0.51 0.348238045 1 hCV25751916
rs10985070 hCV16124825 rs2109895 0.51 0.348238045 0.6467
hCV25751916 rs10985070 hCV16175379 rs2239657 0.51 0.348238045 0.625
hCV25751916 rs10985070 hCV16234795 rs2416804 0.51 0.348238045
0.9353 hCV25751916 rs10985070 hCV1761881 rs3933326 0.51 0.348238045
0.3563 hCV25751916 rs10985070 hCV1761888 rs1953126 0.51 0.348238045
0.6691 hCV25751916 rs10985070 hCV1761891 rs1930778 0.51 0.348238045
0.6222 hCV25751916 rs10985070 hCV1761894 rs1609810 0.51 0.348238045
0.6485 hCV25751916 rs10985070 hCV22272588 rs10760117 0.51
0.348238045 0.3756 hCV25751916 rs10985070 hCV2359565 rs1014530 0.51
0.348238045 0.9671 hCV25751916 rs10985070 hCV26144307 rs1016468
0.51 0.348238045 0.4963 hCV25751916 rs10985070 hCV26144332
rs4837813 0.51 0.348238045 0.4761 hCV25751916 rs10985070 hCV2783582
rs10818482 0.51 0.348238045 1 hCV25751916 rs10985070 hCV2783586
rs2270231 0.51 0.348238045 0.6691 hCV25751916 rs10985070 hCV2783589
rs881375 0.51 0.348238045 0.6691 hCV25751916 rs10985070 hCV2783590
rs6478486 0.51 0.348238045 0.6691 hCV25751916 rs10985070 hCV2783591
rs1468671 0.51 0.348238045 0.6467 hCV25751916 rs10985070 hCV2783593
rs1548783 0.51 0.348238045 0.6423 hCV25751916 rs10985070 hCV2783597
rs1860824 0.51 0.348238045 0.6357 hCV25751916 rs10985070 hCV2783599
rs7046108 0.51 0.348238045 0.6467 hCV25751916 rs10985070 hCV2783604
rs10760126 0.51 0.348238045 0.9666 hCV25751916 rs10985070
hCV2783607 rs9886724 0.51 0.348238045 1 hCV25751916 rs10985070
hCV2783608 rs4836834 0.51 0.348238045 0.9671 hCV25751916 rs10985070
hCV2783609 rs2241003 0.51 0.348238045 0.7074 hCV25751916 rs10985070
hCV2783611 rs10435843 0.51 0.348238045 0.6467 hCV25751916
rs10985070 hCV2783618 rs2239658 0.51 0.348238045 0.6467 hCV25751916
rs10985070 hCV2783620 rs7021880 0.51 0.348238045 0.5878 hCV25751916
rs10985070 hCV2783621 rs2416805 0.51 0.348238045 0.6467 hCV25751916
rs10985070 hCV2783622 rs758959 0.51 0.348238045 0.6467 hCV25751916
rs10985070 hCV2783625 rs10118357 0.51 0.348238045 0.9665
hCV25751916 rs10985070 hCV2783630 rs2269060 0.51 0.348238045 0.9671
hCV25751916 rs10985070 hCV2783633 rs7021049 0.51 0.348238045 0.9671
hCV25751916 rs10985070 hCV2783634 rs1014529 0.51 0.348238045 0.6467
hCV25751916 rs10985070 hCV2783635 rs1930780 0.51 0.348238045 0.6467
hCV25751916 rs10985070 hCV2783638 rs3761846 0.51 0.348238045 0.9671
hCV25751916 rs10985070 hCV2783640 rs3761847 0.51 0.348238045 0.9353
hCV25751916 rs10985070 hCV2783641 rs2416806 0.51 0.348238045 0.6594
hCV25751916 rs10985070 hCV2783647 rs10739580 0.51 0.348238045
0.6467 hCV25751916 rs10985070 hCV2783650 rs10760129 0.51
0.348238045 0.9671 hCV25751916 rs10985070 hCV2783653 rs10760130
0.51 0.348238045 0.9671 hCV25751916 rs10985070 hCV2783655
rs10818488 0.51 0.348238045 0.9671 hCV25751916 rs10985070
hCV2783656 rs4837804 0.51 0.348238045 0.7472 hCV25751916 rs10985070
hCV2783659 rs7039505 0.51 0.348238045 0.6319 hCV25751916 rs10985070
hCV2783711 rs10733650 0.51 0.348238045 0.3903 hCV25751916
rs10985070 hCV2783718 rs10818500 0.51 0.348238045 0.6972
hCV25751916 rs10985070 hCV29005955 rs7036980 0.51 0.348238045
0.4304 hCV25751916 rs10985070 hCV29005976 rs7037195 0.51
0.348238045 0.9671 hCV25751916 rs10985070 hCV29005978 rs7021206
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rs7034390 0.51 0.348238045 0.6691 hCV25751916 rs10985070
hCV29879049 rs9792437 0.51 0.348238045 0.4711 hCV25751916
rs10985070 hCV3045812 rs7030849 0.51 0.348238045 0.4711 hCV25751916
rs10985070 hCV30829523 rs12343516 0.51 0.348238045 0.3542
hCV25751916 rs10985070 hCV30830319 rs7037673 0.51 0.348238045
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rs7040033 0.51 0.348238045 0.4135 hCV25751916 rs10985070
hCV30830419 rs10985140 0.51 0.348238045 0.6598 hCV25751916
rs10985070 hCV30830474 rs10739590 0.51 0.348238045 0.5521
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0.33772028 0.3756 hCV2783582 rs10818482 hCV2359565 rs1014530 0.51
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0.33772028 0.6691 hCV2783582 rs10818482 hCV2783591 rs1468671 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV2783593 rs1548783 0.51
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0.33772028 0.6357 hCV2783582 rs10818482 hCV2783599 rs7046108 0.51
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0.33772028 0.7074 hCV2783582 rs10818482 hCV2783611 rs10435843 0.51
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0.33772028 0.9671 hCV2783582 rs10818482 hCV2783634 rs1014529 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV2783635 rs1930780 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV2783638 rs3761846 0.51
0.33772028 0.9671 hCV2783582 rs10818482 hCV2783640 rs3761847 0.51
0.33772028 0.9353 hCV2783582 rs10818482 hCV2783641 rs2416806 0.51
0.33772028 0.6594 hCV2783582 rs10818482 hCV2783647 rs10739580 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV2783650 rs10760129 0.51
0.33772028 0.9671 hCV2783582 rs10818482 hCV2783653 rs10760130 0.51
0.33772028 0.9671 hCV2783582 rs10818482 hCV2783655 rs10818488 0.51
0.33772028 0.9671 hCV2783582 rs10818482 hCV2783656 rs4837804 0.51
0.33772028 0.7472 hCV2783582 rs10818482 hCV2783659 rs7039505 0.51
0.33772028 0.6319 hCV2783582 rs10818482 hCV2783711 rs10733650 0.51
0.33772028 0.3903 hCV2783582 rs10818482 hCV2783718 rs10818500 0.51
0.33772028 0.6972 hCV2783582 rs10818482 hCV29005955 rs7036980 0.51
0.33772028 0.4304 hCV2783582 rs10818482 hCV29005976 rs7037195 0.51
0.33772028 0.9671 hCV2783582 rs10818482 hCV29005978 rs7021206 0.51
0.33772028 0.6788 hCV2783582 rs10818482 hCV29006006 rs7034390 0.51
0.33772028 0.6691 hCV2783582 rs10818482 hCV29879049 rs9792437 0.51
0.33772028 0.4711 hCV2783582 rs10818482 hCV3045812 rs7030849 0.51
0.33772028 0.4711 hCV2783582 rs10818482 hCV30829523 rs12343516 0.51
0.33772028 0.3542 hCV2783582 rs10818482 hCV30830319 rs7037673 0.51
0.33772028 0.5359 hCV2783582 rs10818482 hCV30830325 rs10818494 0.51
0.33772028 0.4346 hCV2783582 rs10818482 hCV30830340 rs10760134 0.51
0.33772028 0.4135 hCV2783582 rs10818482 hCV30830341 rs7040033 0.51
0.33772028 0.4135 hCV2783582 rs10818482 hCV30830419 rs10985140 0.51
0.33772028 0.6598 hCV2783582 rs10818482 hCV30830474 rs10739590 0.51
0.33772028 0.5521 hCV2783582 rs10818482 hCV30830638 rs10985073 0.51
0.33772028 1 hCV2783582 rs10818482 hCV30830725 rs7864019 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV30830832 rs10733648 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV30830909 rs11794516 0.51
0.33772028 1 hCV2783582 rs10818482 hCV7577254 rs942152 0.51
0.33772028 0.4017 hCV2783582 rs10818482 hCV7577317 rs1323472 0.51
0.33772028 0.6896 hCV2783582 rs10818482 hCV7577331 rs1468673 0.51
0.33772028 0.6896 hCV2783582 rs10818482 hCV7577337 rs993247 0.51
0.33772028 0.347 hCV2783582 rs10818482 hCV7577344 rs876445 0.51
0.33772028 0.6467 hCV2783582 rs10818482 hCV782875 rs746182 0.51
0.33772028 0.4761 hCV2783582 rs10818482 hCV8780517 rs1056567 0.51
0.33772028 0.3396 hCV2783586 rs2270231 hCV11266229 rs10435844 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV11266268 rs10760121 0.51
0.467936232 1 hCV2783586 rs2270231 hCV11720350 rs2057469 0.51
0.467936232 0.4734 hCV2783586 rs2270231 hCV11720413 rs1930782 0.51
0.467936232 0.6344 hCV2783586 rs2270231 hCV11720414 rs1930781 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV15849105 rs2900185 0.51
0.467936232 0.4989 hCV2783586 rs2270231 hCV15849116 rs2900180 0.51
0.467936232 0.9622 hCV2783586 rs2270231 hCV15870898 rs2072438 0.51
0.467936232 0.6691 hCV2783586 rs2270231 hCV16124825 rs2109895 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV16175379 rs2239657 0.51
0.467936232 0.9341 hCV2783586 rs2270231 hCV16234795 rs2416804 0.51
0.467936232 0.6014 hCV2783586 rs2270231 hCV16234838 rs2416819 0.51
0.467936232 0.4734 hCV2783586 rs2270231 hCV16234840 rs2416817 0.51
0.467936232 0.4989 hCV2783586 rs2270231 hCV1632195 rs1998505 0.51
0.467936232 0.4989 hCV2783586 rs2270231 hCV1761888 rs1953126 0.51
0.467936232 1 hCV2783586 rs2270231 hCV1761891 rs1930778 0.51
0.467936232 1 hCV2783586 rs2270231 hCV1761894 rs1609810 0.51
0.467936232 1 hCV2783586 rs2270231 hCV2359565 rs1014530 0.51
0.467936232 0.6344 hCV2783586 rs2270231 hCV25613469 rs10760157 0.51
0.467936232 0.4734 hCV2783586 rs2270231 hCV25751916 rs10985070 0.51
0.467936232 0.6691 hCV2783586 rs2270231 hCV25771057 rs10760150 0.51
0.467936232 0.4989 hCV2783586 rs2270231 hCV2783582 rs10818482 0.51
0.467936232 0.6691 hCV2783586 rs2270231 hCV2783589 rs881375 0.51
0.467936232 1 hCV2783586 rs2270231 hCV2783590 rs6478486 0.51
0.467936232 1 hCV2783586 rs2270231 hCV2783591 rs1468671 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783593 rs1548783 0.51
0.467936232 0.9661 hCV2783586 rs2270231 hCV2783597 rs1860824 0.51
0.467936232 0.965 hCV2783586 rs2270231 hCV2783599 rs7046108 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783604 rs10760126 0.51
0.467936232 0.6526 hCV2783586 rs2270231 hCV2783607 rs9886724 0.51
0.467936232 0.6785 hCV2783586 rs2270231 hCV2783608 rs4836834 0.51
0.467936232 0.6344 hCV2783586 rs2270231 hCV2783609 rs2241003 0.51
0.467936232 0.9321 hCV2783586 rs2270231 hCV2783611 rs10435843 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783618 rs2239658 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783620 rs7021880 0.51
0.467936232 0.8974 hCV2783586 rs2270231 hCV2783621 rs2416805 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783622 rs758959 0.51
0.467936232 0.9666 hCV2783586 rs2270231 hCV2783625 rs10118357 0.51
0.467936232 0.6295 hCV2783586 rs2270231 hCV2783630 rs2269060 0.51
0.467936232 0.6344
hCV2783586 rs2270231 hCV2783633 rs7021049 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV2783634 rs1014529 0.51 0.467936232 0.9666
hCV2783586 rs2270231 hCV2783635 rs1930780 0.51 0.467936232 0.9666
hCV2783586 rs2270231 hCV2783638 rs3761846 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV2783640 rs3761847 0.51 0.467936232 0.6014
hCV2783586 rs2270231 hCV2783641 rs2416806 0.51 0.467936232 1
hCV2783586 rs2270231 hCV2783647 rs10739580 0.51 0.467936232 0.9666
hCV2783586 rs2270231 hCV2783650 rs10760129 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV2783653 rs10760130 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV2783655 rs10818488 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV2783656 rs4837804 0.51 0.467936232 0.8593
hCV2783586 rs2270231 hCV2783659 rs7039505 0.51 0.467936232 0.9615
hCV2783586 rs2270231 hCV27912350 rs4837808 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV27912351 rs4837809 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV29005924 rs7031128 0.51 0.467936232 0.4729
hCV2783586 rs2270231 hCV29005976 rs7037195 0.51 0.467936232 0.6344
hCV2783586 rs2270231 hCV29005978 rs7021206 0.51 0.467936232 0.9651
hCV2783586 rs2270231 hCV29006006 rs7034390 0.51 0.467936232 1
hCV2783586 rs2270231 hCV30059070 rs10156413 0.51 0.467936232 0.5621
hCV2783586 rs2270231 hCV3045792 rs6478499 0.51 0.467936232 0.5164
hCV2783586 rs2270231 hCV30563729 rs9299273 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV30830468 rs10818507 0.51 0.467936232 0.4819
hCV2783586 rs2270231 hCV30830473 rs7036649 0.51 0.467936232 0.5014
hCV2783586 rs2270231 hCV30830484 rs10818508 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV30830486 rs10760149 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV30830503 rs4837811 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV30830512 rs10818512 0.51 0.467936232 0.4734
hCV2783586 rs2270231 hCV30830521 rs10818513 0.51 0.467936232 0.4734
hCV2783586 rs2270231 hCV30830536 rs7047038 0.51 0.467936232 0.4734
hCV2783586 rs2270231 hCV30830638 rs10985073 0.51 0.467936232 0.6691
hCV2783586 rs2270231 hCV30830725 rs7864019 0.51 0.467936232 0.9666
hCV2783586 rs2270231 hCV30830832 rs10733648 0.51 0.467936232 0.9666
hCV2783586 rs2270231 hCV30830909 rs11794516 0.51 0.467936232 0.6691
hCV2783586 rs2270231 hCV7577250 rs942153 0.51 0.467936232 0.4734
hCV2783586 rs2270231 hCV7577271 rs1535655 0.51 0.467936232 0.4734
hCV2783586 rs2270231 hCV7577287 rs1323478 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV7577296 rs1407910 0.51 0.467936232 0.4989
hCV2783586 rs2270231 hCV7577344 rs876445 0.51 0.467936232 0.9666
hCV2783589 rs881375 hCV11266229 rs10435844 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV11266268 rs10760121 0.51 0.499966299 1
hCV2783589 rs881375 hCV11720413 rs1930782 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV11720414 rs1930781 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV15849116 rs2900180 0.51 0.499966299 0.9622
hCV2783589 rs881375 hCV15870898 rs2072438 0.51 0.499966299 0.6691
hCV2783589 rs881375 hCV16124825 rs2109895 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV16175379 rs2239657 0.51 0.499966299 0.9341
hCV2783589 rs881375 hCV16234795 rs2416804 0.51 0.499966299 0.6014
hCV2783589 rs881375 hCV1761888 rs1953126 0.51 0.499966299 1
hCV2783589 rs881375 hCV1761891 rs1930778 0.51 0.499966299 1
hCV2783589 rs881375 hCV1761894 rs1609810 0.51 0.499966299 1
hCV2783589 rs881375 hCV2359565 rs1014530 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV25751916 rs10985070 0.51 0.499966299 0.6691
hCV2783589 rs881375 hCV2783582 rs10818482 0.51 0.499966299 0.6691
hCV2783589 rs881375 hCV2783586 rs2270231 0.51 0.499966299 1
hCV2783589 rs881375 hCV2783590 rs6478486 0.51 0.499966299 1
hCV2783589 rs881375 hCV2783591 rs1468671 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783593 rs1548783 0.51 0.499966299 0.9661
hCV2783589 rs881375 hCV2783597 rs1860824 0.51 0.499966299 0.965
hCV2783589 rs881375 hCV2783599 rs7046108 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783604 rs10760126 0.51 0.499966299 0.6526
hCV2783589 rs881375 hCV2783607 rs9886724 0.51 0.499966299 0.6785
hCV2783589 rs881375 hCV2783608 rs4836834 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783609 rs2241003 0.51 0.499966299 0.9321
hCV2783589 rs881375 hCV2783611 rs10435843 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783618 rs2239658 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783620 rs7021880 0.51 0.499966299 0.8974
hCV2783589 rs881375 hCV2783621 rs2416805 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783622 rs758959 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783625 rs10118357 0.51 0.499966299 0.6295
hCV2783589 rs881375 hCV2783630 rs2269060 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783633 rs7021049 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783634 rs1014529 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783635 rs1930780 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783638 rs3761846 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783640 rs3761847 0.51 0.499966299 0.6014
hCV2783589 rs881375 hCV2783641 rs2416806 0.51 0.499966299 1
hCV2783589 rs881375 hCV2783647 rs10739580 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV2783650 rs10760129 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783653 rs10760130 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783655 rs10818488 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV2783656 rs4837804 0.51 0.499966299 0.8593
hCV2783589 rs881375 hCV2783659 rs7039505 0.51 0.499966299 0.9615
hCV2783589 rs881375 hCV29005976 rs7037195 0.51 0.499966299 0.6344
hCV2783589 rs881375 hCV29005978 rs7021206 0.51 0.499966299 0.9651
hCV2783589 rs881375 hCV29006006 rs7034390 0.51 0.499966299 1
hCV2783589 rs881375 hCV30059070 rs10156413 0.51 0.499966299 0.5621
hCV2783589 rs881375 hCV3045792 rs6478499 0.51 0.499966299 0.5164
hCV2783589 rs881375 hCV30830473 rs7036649 0.51 0.499966299 0.5014
hCV2783589 rs881375 hCV30830638 rs10985073 0.51 0.499966299 0.6691
hCV2783589 rs881375 hCV30830725 rs7864019 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV30830832 rs10733648 0.51 0.499966299 0.9666
hCV2783589 rs881375 hCV30830909 rs11794516 0.51 0.499966299 0.6691
hCV2783589 rs881375 hCV7577344 rs876445 0.51 0.499966299 0.9666
hCV2783590 rs6478486 hCV11266229 rs10435844 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV11266268 rs10760121 0.51 0.400501157 1
hCV2783590 rs6478486 hCV11720350 rs2057469 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV11720386 rs1998506 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV11720394 rs1924081 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV11720413 rs1930782 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV11720414 rs1930781 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV15849105 rs2900185 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV15849116 rs2900180 0.51 0.400501157 0.9622
hCV2783590 rs6478486 hCV15870898 rs2072438 0.51 0.400501157 0.6691
hCV2783590 rs6478486 hCV16124825 rs2109895 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV16175379 rs2239657 0.51 0.400501157 0.9341
hCV2783590 rs6478486 hCV16180474 rs2273988 0.51 0.400501157 0.4011
hCV2783590 rs6478486 hCV16234795 rs2416804 0.51 0.400501157 0.6014
hCV2783590 rs6478486 hCV16234838 rs2416819 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV16234840 rs2416817 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV1632195 rs1998505 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV1632205 rs10818509 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV1761888 rs1953126 0.51 0.400501157 1
hCV2783590 rs6478486 hCV1761891 rs1930778 0.51 0.400501157 1
hCV2783590 rs6478486 hCV1761894 rs1609810 0.51 0.400501157 1
hCV2783590 rs6478486 hCV2359565 rs1014530 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV25472748 rs10760138 0.51 0.400501157 0.4328
hCV2783590 rs6478486 hCV25613469 rs10760157 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV25746749 rs7023214 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV25751916 rs10985070 0.51 0.400501157 0.6691
hCV2783590 rs6478486 hCV25771057 rs10760150 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV25969661 rs10818503 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV26144328 rs4836841 0.51 0.400501157 0.4011
hCV2783590 rs6478486 hCV2783582 rs10818482 0.51 0.400501157 0.6691
hCV2783590 rs6478486 hCV2783586 rs2270231 0.51 0.400501157 1
hCV2783590 rs6478486 hCV2783589 rs881375 0.51 0.400501157 1
hCV2783590 rs6478486 hCV2783591 rs1468671 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783593 rs1548783 0.51 0.400501157 0.9661
hCV2783590 rs6478486 hCV2783597 rs1860824 0.51 0.400501157 0.965
hCV2783590 rs6478486 hCV2783599 rs7046108 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783604 rs10760126 0.51 0.400501157 0.6526
hCV2783590 rs6478486 hCV2783607 rs9886724 0.51 0.400501157 0.6785
hCV2783590 rs6478486 hCV2783608 rs4836834 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783609 rs2241003 0.51 0.400501157 0.9321
hCV2783590 rs6478486 hCV2783611 rs10435843 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783618 rs2239658 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783620 rs7021880 0.51 0.400501157 0.8974
hCV2783590 rs6478486 hCV2783621 rs2416805 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783622 rs758959 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783625 rs10118357 0.51 0.400501157 0.6295
hCV2783590 rs6478486 hCV2783630 rs2269060 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783633 rs7021049 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783634 rs1014529 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783635 rs1930780 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783638 rs3761846 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783640 rs3761847 0.51 0.400501157 0.6014
hCV2783590 rs6478486 hCV2783641 rs2416806 0.51 0.400501157 1
hCV2783590 rs6478486 hCV2783647 rs10739580 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV2783650 rs10760129 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783653 rs10760130 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783655 rs10818488 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV2783656 rs4837804 0.51 0.400501157 0.8593
hCV2783590 rs6478486 hCV2783659 rs7039505 0.51 0.400501157 0.9615
hCV2783590 rs6478486 hCV27912350 rs4837808 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV27912351 rs4837809 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV29005922 rs7033790 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV29005923 rs6478494 0.51 0.400501157 0.4648
hCV2783590 rs6478486 hCV29005924 rs7031128 0.51 0.400501157 0.4729
hCV2783590 rs6478486 hCV29005931 rs6478496 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV29005938 rs7856420 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV29005976 rs7037195 0.51 0.400501157 0.6344
hCV2783590 rs6478486 hCV29005978 rs7021206 0.51 0.400501157 0.9651
hCV2783590 rs6478486 hCV29006006 rs7034390 0.51 0.400501157 1
hCV2783590 rs6478486 hCV30059070 rs10156413 0.51 0.400501157 0.5621
hCV2783590 rs6478486 hCV30293181 rs10081760 0.51 0.400501157 0.4218
hCV2783590 rs6478486 hCV3045792 rs6478499 0.51 0.400501157 0.5164
hCV2783590 rs6478486 hCV3045801 rs2057465 0.51 0.400501157 0.4611
hCV2783590 rs6478486 hCV3045802 rs2057466 0.51 0.400501157 0.4011
hCV2783590 rs6478486 hCV3045803 rs2146836 0.51 0.400501157 0.4011
hCV2783590 rs6478486 hCV30527383 rs9644911 0.51 0.400501157 0.4218
hCV2783590 rs6478486 hCV30563728 rs10156396 0.51 0.400501157 0.429
hCV2783590 rs6478486 hCV30563729 rs9299273 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV30830342 rs7040319 0.51 0.400501157 0.4044
hCV2783590 rs6478486 hCV30830395 rs10985132 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV30830397 rs10760139 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV30830406 rs7040603 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV30830407 rs10739585 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV30830414 rs7871371 0.51 0.400501157 0.4541
hCV2783590 rs6478486 hCV30830417 rs7029523 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV30830435 rs10739586 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV30830458 rs10733651 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV30830468 rs10818507 0.51 0.400501157 0.4819
hCV2783590 rs6478486 hCV30830473 rs7036649 0.51 0.400501157 0.5014
hCV2783590 rs6478486 hCV30830475 rs10733652 0.51 0.400501157 0.4539
hCV2783590 rs6478486 hCV30830484 rs10818508 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV30830486 rs10760149 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV30830503 rs4837811 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV30830512 rs10818512 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV30830521 rs10818513 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV30830536 rs7047038 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV30830538 rs10760152 0.51 0.400501157 0.4168
hCV2783590 rs6478486 hCV30830638 rs10985073 0.51 0.400501157 0.6691
hCV2783590 rs6478486 hCV30830725 rs7864019 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV30830832 rs10733648 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV30830909 rs11794516 0.51 0.400501157 0.6691
hCV2783590 rs6478486 hCV7577250 rs942153 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV7577271 rs1535655 0.51 0.400501157 0.4734
hCV2783590 rs6478486 hCV7577286 rs1407912 0.51 0.400501157 0.4237
hCV2783590 rs6478486 hCV7577287 rs1323478 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV7577296 rs1407910 0.51 0.400501157 0.4989
hCV2783590 rs6478486 hCV7577311 rs1323473 0.51 0.400501157 0.4466
hCV2783590 rs6478486 hCV7577317 rs1323472 0.51 0.400501157 0.404
hCV2783590 rs6478486 hCV7577328 rs1323476 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV7577331 rs1468673 0.51 0.400501157 0.404
hCV2783590 rs6478486 hCV7577332 rs1468672 0.51 0.400501157 0.4414
hCV2783590 rs6478486 hCV7577344 rs876445 0.51 0.400501157 0.9666
hCV2783590 rs6478486 hCV782872 rs758958 0.51 0.400501157 0.4414
hCV2783597 rs1860824 hCV11266229 rs10435844 0.51 0.424042897 1
hCV2783597 rs1860824 hCV11266268 rs10760121 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV11720350 rs2057469 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV11720413 rs1930782 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV11720414 rs1930781 0.51 0.424042897 1
hCV2783597 rs1860824 hCV15849105 rs2900185 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV15849116 rs2900180 0.51 0.424042897 1
hCV2783597 rs1860824 hCV15870898 rs2072438 0.51 0.424042897 0.6357
hCV2783597 rs1860824 hCV16124825 rs2109895 0.51 0.424042897 1
hCV2783597 rs1860824 hCV16175379 rs2239657 0.51 0.424042897 0.9647
hCV2783597 rs1860824 hCV16234795 rs2416804 0.51 0.424042897 0.6215
hCV2783597 rs1860824 hCV16234838 rs2416819 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV16234840 rs2416817 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV1632195 rs1998505 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV1761888 rs1953126 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV1761891 rs1930778 0.51 0.424042897 0.959
hCV2783597 rs1860824 hCV1761894 rs1609810 0.51 0.424042897 0.9588
hCV2783597 rs1860824 hCV2359565 rs1014530 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV25613469 rs10760157 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV25751916 rs10985070 0.51 0.424042897 0.6357
hCV2783597 rs1860824 hCV25771057 rs10760150 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV2783582 rs10818482 0.51 0.424042897 0.6357
hCV2783597 rs1860824 hCV2783586 rs2270231 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV2783589 rs881375 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV2783590 rs6478486 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV2783591 rs1468671 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783593 rs1548783 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783599 rs7046108 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783604 rs10760126 0.51 0.424042897 0.6773
hCV2783597 rs1860824 hCV2783607 rs9886724 0.51 0.424042897 0.6676
hCV2783597 rs1860824 hCV2783608 rs4836834 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783609 rs2241003 0.51 0.424042897 0.9289
hCV2783597 rs1860824 hCV2783611 rs10435843 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783618 rs2239658 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783620 rs7021880 0.51 0.424042897 0.9627
hCV2783597 rs1860824 hCV2783621 rs2416805 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783622 rs758959 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783625 rs10118357 0.51 0.424042897 0.6539
hCV2783597 rs1860824 hCV2783630 rs2269060 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783633 rs7021049 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783634 rs1014529 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783635 rs1930780 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783638 rs3761846 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783640 rs3761847 0.51 0.424042897 0.6215
hCV2783597 rs1860824 hCV2783641 rs2416806 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783647 rs10739580 0.51 0.424042897 1
hCV2783597 rs1860824 hCV2783650 rs10760129 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783653 rs10760130 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783655 rs10818488 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV2783656 rs4837804 0.51 0.424042897 0.8909
hCV2783597 rs1860824 hCV2783659 rs7039505 0.51 0.424042897 1
hCV2783597 rs1860824 hCV27912350 rs4837808 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV27912351 rs4837809 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV29005923 rs6478494 0.51 0.424042897 0.4396
hCV2783597 rs1860824 hCV29005924 rs7031128 0.51 0.424042897 0.4439
hCV2783597 rs1860824 hCV29005976 rs7037195 0.51 0.424042897 0.6581
hCV2783597 rs1860824 hCV29005978 rs7021206 0.51 0.424042897 1
hCV2783597 rs1860824 hCV29006006 rs7034390 0.51 0.424042897 0.965
hCV2783597 rs1860824 hCV30059070 rs10156413 0.51 0.424042897 0.5428
hCV2783597 rs1860824 hCV3045792 rs6478499 0.51 0.424042897 0.4923
hCV2783597 rs1860824 hCV3045801 rs2057465 0.51 0.424042897 0.4342
hCV2783597 rs1860824 hCV30563729 rs9299273 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV30830414 rs7871371 0.51 0.424042897 0.4332
hCV2783597 rs1860824 hCV30830468 rs10818507 0.51 0.424042897 0.4577
hCV2783597 rs1860824 hCV30830473 rs7036649 0.51 0.424042897 0.4725
hCV2783597 rs1860824 hCV30830475 rs10733652 0.51 0.424042897 0.4293
hCV2783597 rs1860824 hCV30830484 rs10818508 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV30830486 rs10760149 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV30830503 rs4837811 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV30830512 rs10818512 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV30830521 rs10818513 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV30830536 rs7047038 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV30830638 rs10985073 0.51 0.424042897 0.6357
hCV2783597 rs1860824 hCV30830725 rs7864019 0.51 0.424042897 1
hCV2783597 rs1860824 hCV30830832 rs10733648 0.51 0.424042897 1
hCV2783597 rs1860824 hCV30830909 rs11794516 0.51 0.424042897 0.6357
hCV2783597 rs1860824 hCV7577250 rs942153 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV7577271 rs1535655 0.51 0.424042897 0.4487
hCV2783597 rs1860824 hCV7577287 rs1323478 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV7577296 rs1407910 0.51 0.424042897 0.4737
hCV2783597 rs1860824 hCV7577311 rs1323473 0.51 0.424042897 0.4249
hCV2783597 rs1860824 hCV7577344 rs876445 0.51 0.424042897 1
hCV2783604 rs10760126 hCV11266229 rs10435844 0.51 0.330072784
0.6875 hCV2783604 rs10760126 hCV11266268 rs10760121 0.51
0.330072784 0.6526 hCV2783604 rs10760126 hCV11720351 rs1885995 0.51
0.330072784 0.4639 hCV2783604 rs10760126 hCV11720413 rs1930782 0.51
0.330072784 1 hCV2783604 rs10760126 hCV11720414 rs1930781 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV1452630 rs10818476 0.51
0.330072784 0.362 hCV2783604 rs10760126 hCV1452651 rs3793638 0.51
0.330072784 0.3397 hCV2783604 rs10760126 hCV1452652 rs1060817 0.51
0.330072784 0.3397 hCV2783604 rs10760126 hCV1452665 rs4837796 0.51
0.330072784 0.362 hCV2783604 rs10760126 hCV15751717 rs2296077 0.51
0.330072784 0.404 hCV2783604 rs10760126 hCV15751719 rs2146838 0.51
0.330072784 0.4639 hCV2783604 rs10760126 hCV15757738 rs2302498 0.51
0.330072784 0.4182 hCV2783604 rs10760126 hCV15849116 rs2900180 0.51
0.330072784 0.6795 hCV2783604 rs10760126 hCV15870898 rs2072438 0.51
0.330072784 0.9666 hCV2783604 rs10760126 hCV16124825 rs2109895 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV16175379 rs2239657 0.51
0.330072784 0.6641 hCV2783604 rs10760126 hCV16234795 rs2416804 0.51
0.330072784 0.9666 hCV2783604 rs10760126 hCV1761888 rs1953126 0.51
0.330072784 0.6526 hCV2783604 rs10760126 hCV1761891 rs1930778 0.51
0.330072784 0.5969 hCV2783604 rs10760126 hCV1761894 rs1609810 0.51
0.330072784 0.6271 hCV2783604 rs10760126 hCV22272588 rs10760117
0.51 0.330072784 0.362 hCV2783604 rs10760126 hCV2359565 rs1014530
0.51 0.330072784 1 hCV2783604 rs10760126 hCV25751916 rs10985070
0.51 0.330072784 0.9666 hCV2783604 rs10760126 hCV26144307 rs1016468
0.51 0.330072784 0.4639 hCV2783604 rs10760126 hCV26144332 rs4837813
0.51 0.330072784 0.4432 hCV2783604 rs10760126 hCV2783582 rs10818482
0.51 0.330072784 0.9666 hCV2783604 rs10760126 hCV2783586 rs2270231
0.51 0.330072784 0.6526 hCV2783604 rs10760126 hCV2783589 rs881375
0.51 0.330072784 0.6526 hCV2783604 rs10760126 hCV2783590 rs6478486
0.51 0.330072784 0.6526 hCV2783604 rs10760126 hCV2783591 rs1468671
0.51 0.330072784 0.6875 hCV2783604 rs10760126 hCV2783593 rs1548783
0.51 0.330072784 0.6834 hCV2783604 rs10760126 hCV2783597 rs1860824
0.51 0.330072784 0.6773 hCV2783604 rs10760126 hCV2783599 rs7046108
0.51 0.330072784 0.6875 hCV2783604 rs10760126 hCV2783607 rs9886724
0.51 0.330072784 1 hCV2783604 rs10760126 hCV2783608 rs4836834 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783609 rs2241003 0.51
0.330072784 0.7286 hCV2783604 rs10760126 hCV2783611 rs10435843 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783618 rs2239658 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783620 rs7021880 0.51
0.330072784 0.6261 hCV2783604 rs10760126 hCV2783621 rs2416805 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783622 rs758959 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783625 rs10118357 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783630 rs2269060 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783633 rs7021049 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783634 rs1014529 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783635 rs1930780 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783638 rs3761846 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783640 rs3761847 0.51
0.330072784 0.9666 hCV2783604 rs10760126 hCV2783641 rs2416806 0.51
0.330072784 0.6785 hCV2783604 rs10760126 hCV2783647 rs10739580 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV2783650 rs10760129 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783653 rs10760130 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783655 rs10818488 0.51
0.330072784 1 hCV2783604 rs10760126 hCV2783656 rs4837804 0.51
0.330072784 0.8006 hCV2783604 rs10760126 hCV2783659 rs7039505 0.51
0.330072784 0.6774 hCV2783604 rs10760126 hCV2783711 rs10733650 0.51
0.330072784 0.3631 hCV2783604 rs10760126 hCV2783718 rs10818500 0.51
0.330072784 0.6603 hCV2783604 rs10760126 hCV29005955 rs7036980 0.51
0.330072784 0.3971 hCV2783604 rs10760126 hCV29005976 rs7037195 0.51
0.330072784 1 hCV2783604 rs10760126 hCV29005978 rs7021206 0.51
0.330072784 0.7031 hCV2783604 rs10760126 hCV29006006 rs7034390 0.51
0.330072784 0.6526 hCV2783604 rs10760126 hCV29879049 rs9792437 0.51
0.330072784 0.4385 hCV2783604 rs10760126 hCV3045812 rs7030849 0.51
0.330072784 0.4385 hCV2783604 rs10760126 hCV30829523 rs12343516
0.51 0.330072784 0.3397 hCV2783604 rs10760126 hCV30830319 rs7037673
0.51 0.330072784 0.5102 hCV2783604 rs10760126 hCV30830325
rs10818494 0.51 0.330072784 0.4062 hCV2783604 rs10760126
hCV30830340 rs10760134 0.51 0.330072784 0.3861 hCV2783604
rs10760126 hCV30830341 rs7040033 0.51 0.330072784 0.3861 hCV2783604
rs10760126 hCV30830419 rs10985140 0.51 0.330072784 0.6258
hCV2783604 rs10760126 hCV30830474 rs10739590 0.51 0.330072784
0.5091 hCV2783604 rs10760126 hCV30830638 rs10985073 0.51
0.330072784 0.9666 hCV2783604 rs10760126 hCV30830725 rs7864019 0.51
0.330072784 0.6875 hCV2783604 rs10760126 hCV30830832 rs10733648
0.51 0.330072784 0.6875 hCV2783604 rs10760126 hCV30830909
rs11794516 0.51 0.330072784 0.9666 hCV2783604 rs10760126 hCV7577254
rs942152 0.51 0.330072784 0.3708 hCV2783604 rs10760126 hCV7577317
rs1323472 0.51 0.330072784 0.6549 hCV2783604 rs10760126 hCV7577331
rs1468673 0.51 0.330072784 0.6549 hCV2783604 rs10760126 hCV7577344
rs876445 0.51 0.330072784 0.6875 hCV2783604 rs10760126 hCV782875
rs746182 0.51 0.330072784 0.4432 hCV2783608 rs4836834 hCV11266229
rs10435844 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV11266268
rs10760121 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV11720351
rs1885995 0.51 0.330072784 0.472 hCV2783608 rs4836834 hCV11720402
rs17611 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV11720413
rs1930782 0.51 0.330072784 1 hCV2783608 rs4836834 hCV11720414
rs1930781 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV1452630
rs10818476 0.51 0.330072784 0.3495 hCV2783608 rs4836834 hCV1452665
rs4837796 0.51 0.330072784 0.3495 hCV2783608 rs4836834 hCV15751717
rs2296077 0.51 0.330072784 0.4129 hCV2783608 rs4836834 hCV15751719
rs2146838 0.51 0.330072784 0.472 hCV2783608 rs4836834 hCV15757738
rs2302498 0.51 0.330072784 0.4266 hCV2783608 rs4836834 hCV15849116
rs2900180 0.51 0.330072784 0.6587 hCV2783608 rs4836834 hCV15870898
rs2072438 0.51 0.330072784 0.9671 hCV2783608 rs4836834 hCV16124825
rs2109895 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV16175379
rs2239657 0.51 0.330072784 0.6463 hCV2783608 rs4836834 hCV16234785
rs2416811 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV16234795
rs2416804 0.51 0.330072784 0.9672 hCV2783608 rs4836834 hCV1761888
rs1953126 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV1761891
rs1930778 0.51 0.330072784 0.5775 hCV2783608 rs4836834 hCV1761894
rs1609810 0.51 0.330072784 0.6068 hCV2783608 rs4836834 hCV22272588
rs10760117 0.51 0.330072784 0.3495 hCV2783608 rs4836834 hCV2359565
rs1014530 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2359571
rs25681 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV25751916
rs10985070 0.51 0.330072784 0.9671 hCV2783608 rs4836834 hCV26144282
rs10818499 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV26144291
rs4570235 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV26144307
rs1016468 0.51 0.330072784 0.472 hCV2783608 rs4836834 hCV26144332
rs4837813 0.51 0.330072784 0.4513 hCV2783608 rs4836834 hCV2783582
rs10818482 0.51 0.330072784 0.9671 hCV2783608 rs4836834 hCV2783586
rs2270231 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV2783589
rs881375 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV2783590
rs6478486 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV2783591
rs1468671 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783593
rs1548783 0.51 0.330072784 0.6645 hCV2783608 rs4836834 hCV2783597
rs1860824 0.51 0.330072784 0.6581 hCV2783608 rs4836834 hCV2783599
rs7046108 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783604
rs10760126 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783607
rs9886724 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783609
rs2241003 0.51 0.330072784 0.7074 hCV2783608 rs4836834 hCV2783611
rs10435843 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783618
rs2239658 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783620
rs7021880 0.51 0.330072784 0.6088 hCV2783608 rs4836834 hCV2783621
rs2416805 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783622
rs758959 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783625
rs10118357 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783630
rs2269060 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783633
rs7021049 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783634
rs1014529 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783635
rs1930780 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783638
rs3761846 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783640
rs3761847 0.51 0.330072784 0.9672 hCV2783608 rs4836834 hCV2783641
rs2416806 0.51 0.330072784 0.6594 hCV2783608 rs4836834 hCV2783647
rs10739580 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV2783650
rs10760129 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783653
rs10760130 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783655
rs10818488 0.51 0.330072784 1 hCV2783608 rs4836834 hCV2783656
rs4837804 0.51 0.330072784 0.775 hCV2783608 rs4836834 hCV2783659
rs7039505 0.51 0.330072784 0.6562 hCV2783608 rs4836834 hCV2783711
rs10733650 0.51 0.330072784 0.3723 hCV2783608 rs4836834 hCV2783718
rs10818500 0.51 0.330072784 0.6661 hCV2783608 rs4836834 hCV29005955
rs7036980 0.51 0.330072784 0.4056 hCV2783608 rs4836834 hCV29005976
rs7037195 0.51 0.330072784 1 hCV2783608 rs4836834 hCV29005978
rs7021206 0.51 0.330072784 0.7031 hCV2783608 rs4836834 hCV29006006
rs7034390 0.51 0.330072784 0.6344 hCV2783608 rs4836834 hCV29879049
rs9792437 0.51 0.330072784 0.4468 hCV2783608 rs4836834 hCV3045812
rs7030849 0.51 0.330072784 0.4468 hCV2783608 rs4836834 hCV30830319
rs7037673 0.51 0.330072784 0.517 hCV2783608 rs4836834 hCV30830325
rs10818494 0.51 0.330072784 0.4154 hCV2783608 rs4836834 hCV30830340
rs10760134 0.51 0.330072784 0.3949 hCV2783608 rs4836834 hCV30830341
rs7040033 0.51 0.330072784 0.3949 hCV2783608 rs4836834 hCV30830419
rs10985140 0.51 0.330072784 0.6317 hCV2783608 rs4836834 hCV30830474
rs10739590 0.51 0.330072784 0.5169 hCV2783608 rs4836834 hCV30830638
rs10985073 0.51 0.330072784 0.9671 hCV2783608 rs4836834 hCV30830725
rs7864019 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV30830832
rs10733648 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV30830909
rs11794516 0.51 0.330072784 0.9671 hCV2783608 rs4836834 hCV7577254
rs942152 0.51 0.330072784 0.3797 hCV2783608 rs4836834 hCV7577317
rs1323472 0.51 0.330072784 0.6604 hCV2783608 rs4836834 hCV7577331
rs1468673 0.51 0.330072784 0.6604 hCV2783608 rs4836834 hCV7577337
rs993247 0.51 0.330072784 0.3301 hCV2783608 rs4836834 hCV7577344
rs876445 0.51 0.330072784 0.6687 hCV2783608 rs4836834 hCV782875
rs746182 0.51 0.330072784 0.4513 hCV2783618 rs2239658 hCV11266229
rs10435844 0.51 0.423423973 1 hCV2783618 rs2239658 hCV11266268
rs10760121 0.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV11720350
rs2057469 0.51 0.423423973 0.4465 hCV2783618 rs2239658 hCV11720413
rs1930782 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV11720414
rs1930781 0.51 0.423423973 1 hCV2783618 rs2239658 hCV15849105
rs2900185 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV15849116
rs2900180 0.51 0.423423973 1 hCV2783618 rs2239658 hCV15870898
rs2072438 0.51 0.423423973 0.6467 hCV2783618 rs2239658 hCV16124825
rs2109895 0.51 0.423423973 1 hCV2783618 rs2239658 hCV16175379
rs2239657 0.51 0.423423973 0.9664 hCV2783618 rs2239658 hCV16234795
rs2416804 0.51 0.423423973 0.6341 hCV2783618 rs2239658 hCV16234838
rs2416819 0.51 0.423423973 0.4465 hCV2783618 rs2239658 hCV16234840
rs2416817 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV1632195
rs1998505 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV1761888
rs1953126 0.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV1761891
rs1930778 0.51 0.423423973 0.9602 hCV2783618 rs2239658 hCV1761894
rs1609810 0.51 0.423423973 0.9609 hCV2783618 rs2239658 hCV2359565
rs1014530 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV25613469
rs10760157 0.51 0.423423973 0.4465 hCV2783618 rs2239658 hCV25751916
rs10985070 0.51 0.423423973 0.6467 hCV2783618 rs2239658 hCV25771057
rs10760150 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV2783582
rs10818482 0.51 0.423423973 0.6467 hCV2783618 rs2239658 hCV2783586
rs2270231 0.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV2783589
rs881375 0.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV2783590
rs6478486 0.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV2783591
rs1468671 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783593
rs1548783 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783597
rs1860824 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783599
rs7046108 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783604
rs10760126 0.51 0.423423973 0.6875 hCV2783618 rs2239658 hCV2783607
rs9886724 0.51 0.423423973 0.6785 hCV2783618 rs2239658 hCV2783608
rs4836834 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783609
rs2241003 0.51 0.423423973 0.9321 hCV2783618 rs2239658 hCV2783611
rs10435843 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783620
rs7021880 0.51 0.423423973 0.9301 hCV2783618 rs2239658 hCV2783621
rs2416805 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783622
rs758959 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783625
rs10118357 0.51 0.423423973 0.6645 hCV2783618 rs2239658 hCV2783630
rs2269060 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783633
rs7021049 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783634
rs1014529 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783635
rs1930780 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783638
rs3761846 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783640
rs3761847 0.51 0.423423973 0.6341 hCV2783618 rs2239658 hCV2783641
rs2416806 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783647
rs10739580 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783650
rs10760129 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783653
rs10760130 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783655
rs10818488 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV2783656
rs4837804 0.51 0.423423973 0.8956 hCV2783618 rs2239658 hCV2783659
rs7039505 0.51 0.423423973 1 hCV2783618 rs2239658 hCV27912350
rs4837808 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV27912351
rs4837809 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV29005923 rs6478494 0.51 0.423423973 0.4238
hCV2783618 rs2239658 hCV29005924 rs7031128 0.51 0.423423973 0.4264
hCV2783618 rs2239658 hCV29005976 rs7037195 0.51 0.423423973 0.6687
hCV2783618 rs2239658 hCV29005978 rs7021206 0.51 0.423423973 1
hCV2783618 rs2239658 hCV29006006 rs7034390 0.51 0.423423973 0.9666
hCV2783618 rs2239658 hCV30059070 rs10156413 0.51 0.423423973 0.5258
hCV2783618 rs2239658 hCV3045792 rs6478499 0.51 0.423423973 0.4879
hCV2783618 rs2239658 hCV3045801 rs2057465 0.51 0.423423973 0.4332
hCV2783618 rs2239658 hCV30563729 rs9299273 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV30830468 rs10818507 0.51 0.423423973 0.4539
hCV2783618 rs2239658 hCV30830473 rs7036649 0.51 0.423423973 0.4705
hCV2783618 rs2239658 hCV30830475 rs10733652 0.51 0.423423973 0.4269
hCV2783618 rs2239658 hCV30830484 rs10818508 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV30830486 rs10760149 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV30830503 rs4837811 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV30830512 rs10818512 0.51 0.423423973 0.4465
hCV2783618 rs2239658 hCV30830521 rs10818513 0.51 0.423423973 0.4465
hCV2783618 rs2239658 hCV30830536 rs7047038 0.51 0.423423973 0.4465
hCV2783618 rs2239658 hCV30830638 rs10985073 0.51 0.423423973 0.6467
hCV2783618 rs2239658 hCV30830725 rs7864019 0.51 0.423423973 1
hCV2783618 rs2239658 hCV30830832 rs10733648 0.51 0.423423973 1
hCV2783618 rs2239658 hCV30830909 rs11794516 0.51 0.423423973 0.6467
hCV2783618 rs2239658 hCV7577250 rs942153 0.51 0.423423973 0.4465
hCV2783618 rs2239658 hCV7577271 rs1535655 0.51 0.423423973 0.4465
hCV2783618 rs2239658 hCV7577287 rs1323478 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV7577296 rs1407910 0.51 0.423423973 0.4708
hCV2783618 rs2239658 hCV7577344 rs876445 0.51 0.423423973 1
hCV2783620 rs7021880 hCV11266229 rs10435844 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV11266268 rs10760121 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV11720348 rs2057470 0.51 0.304581904 0.3276
hCV2783620 rs7021880 hCV11720350 rs2057469 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV11720386 rs1998506 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV11720394 rs1924081 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV11720413 rs1930782 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV11720414 rs1930781 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV1452630 rs10818476 0.51 0.304581904 0.3276
hCV2783620 rs7021880 hCV1452665 rs4837796 0.51 0.304581904 0.3276
hCV2783620 rs7021880 hCV15849105 rs2900185 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV15849116 rs2900180 0.51 0.304581904 0.9252
hCV2783620 rs7021880 hCV15870898 rs2072438 0.51 0.304581904 0.5878
hCV2783620 rs7021880 hCV16077967 rs2159776 0.51 0.304581904 0.3489
hCV2783620 rs7021880 hCV16124825 rs2109895 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV16175379 rs2239657 0.51 0.304581904 0.8938
hCV2783620 rs7021880 hCV16180474 rs2273988 0.51 0.304581904 0.3656
hCV2783620 rs7021880 hCV16234795 rs2416804 0.51 0.304581904 0.5724
hCV2783620 rs7021880 hCV16234838 rs2416819 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV16234840 rs2416817 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV1632195 rs1998505 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV1632205 rs10818509 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV1761888 rs1953126 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV1761891 rs1930778 0.51 0.304581904 0.919
hCV2783620 rs7021880 hCV1761894 rs1609810 0.51 0.304581904 0.8797
hCV2783620 rs7021880 hCV22272588 rs10760117 0.51 0.304581904 0.3276
hCV2783620 rs7021880 hCV2359565 rs1014530 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV25472748 rs10760138 0.51 0.304581904 0.3378
hCV2783620 rs7021880 hCV25613469 rs10760157 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV25746749 rs7023214 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV25751916 rs10985070 0.51 0.304581904 0.5878
hCV2783620 rs7021880 hCV25771057 rs10760150 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV25969661 rs10818503 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV26144328 rs4836841 0.51 0.304581904 0.3656
hCV2783620 rs7021880 hCV2783582 rs10818482 0.51 0.304581904 0.5878
hCV2783620 rs7021880 hCV2783586 rs2270231 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV2783589 rs881375 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV2783590 rs6478486 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV2783591 rs1468671 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783593 rs1548783 0.51 0.304581904 0.9293
hCV2783620 rs7021880 hCV2783597 rs1860824 0.51 0.304581904 0.9627
hCV2783620 rs7021880 hCV2783599 rs7046108 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783604 rs10760126 0.51 0.304581904 0.6261
hCV2783620 rs7021880 hCV2783607 rs9886724 0.51 0.304581904 0.6151
hCV2783620 rs7021880 hCV2783608 rs4836834 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783609 rs2241003 0.51 0.304581904 0.8611
hCV2783620 rs7021880 hCV2783611 rs10435843 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783618 rs2239658 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783621 rs2416805 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783622 rs758959 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783625 rs10118357 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783630 rs2269060 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783633 rs7021049 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783634 rs1014529 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783635 rs1930780 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783638 rs3761846 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783640 rs3761847 0.51 0.304581904 0.5724
hCV2783620 rs7021880 hCV2783641 rs2416806 0.51 0.304581904 0.9275
hCV2783620 rs7021880 hCV2783647 rs10739580 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV2783650 rs10760129 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783653 rs10760130 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783655 rs10818488 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV2783656 rs4837804 0.51 0.304581904 0.8278
hCV2783620 rs7021880 hCV2783659 rs7039505 0.51 0.304581904 0.9186
hCV2783620 rs7021880 hCV2783699 rs10760135 0.51 0.304581904 0.321
hCV2783620 rs7021880 hCV2783718 rs10818500 0.51 0.304581904 0.3411
hCV2783620 rs7021880 hCV27912350 rs4837808 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV27912351 rs4837809 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV29005922 rs7033790 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV29005923 rs6478494 0.51 0.304581904 0.3617
hCV2783620 rs7021880 hCV29005924 rs7031128 0.51 0.304581904 0.3572
hCV2783620 rs7021880 hCV29005931 rs6478496 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV29005938 rs7856420 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV29005976 rs7037195 0.51 0.304581904 0.6088
hCV2783620 rs7021880 hCV29005978 rs7021206 0.51 0.304581904 0.9271
hCV2783620 rs7021880 hCV29006006 rs7034390 0.51 0.304581904 0.8974
hCV2783620 rs7021880 hCV30059070 rs10156413 0.51 0.304581904 0.4923
hCV2783620 rs7021880 hCV30293181 rs10081760 0.51 0.304581904 0.3856
hCV2783620 rs7021880 hCV3045792 rs6478499 0.51 0.304581904 0.4822
hCV2783620 rs7021880 hCV3045801 rs2057465 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV3045802 rs2057466 0.51 0.304581904 0.3656
hCV2783620 rs7021880 hCV3045803 rs2146836 0.51 0.304581904 0.3656
hCV2783620 rs7021880 hCV30527383 rs9644911 0.51 0.304581904 0.3609
hCV2783620 rs7021880 hCV30563728 rs10156396 0.51 0.304581904 0.3378
hCV2783620 rs7021880 hCV30563729 rs9299273 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV30830319 rs7037673 0.51 0.304581904 0.3171
hCV2783620 rs7021880 hCV30830339 rs10818495 0.51 0.304581904 0.3411
hCV2783620 rs7021880 hCV30830342 rs7040319 0.51 0.304581904 0.359
hCV2783620 rs7021880 hCV30830395 rs10985132 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830396 rs10739584 0.51 0.304581904 0.3193
hCV2783620 rs7021880 hCV30830397 rs10760139 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830406 rs7040603 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830407 rs10739585 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830414 rs7871371 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830417 rs7029523 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV30830419 rs10985140 0.51 0.304581904 0.3342
hCV2783620 rs7021880 hCV30830435 rs10739586 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV30830458 rs10733651 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV30830468 rs10818507 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV30830473 rs7036649 0.51 0.304581904 0.4545
hCV2783620 rs7021880 hCV30830475 rs10733652 0.51 0.304581904 0.3957
hCV2783620 rs7021880 hCV30830484 rs10818508 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV30830486 rs10760149 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV30830503 rs4837811 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV30830512 rs10818512 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV30830521 rs10818513 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV30830536 rs7047038 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV30830538 rs10760152 0.51 0.304581904 0.3778
hCV2783620 rs7021880 hCV30830638 rs10985073 0.51 0.304581904 0.5878
hCV2783620 rs7021880 hCV30830725 rs7864019 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV30830832 rs10733648 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV30830909 rs11794516 0.51 0.304581904 0.5878
hCV2783620 rs7021880 hCV7577250 rs942153 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV7577271 rs1535655 0.51 0.304581904 0.438
hCV2783620 rs7021880 hCV7577286 rs1407912 0.51 0.304581904 0.388
hCV2783620 rs7021880 hCV7577287 rs1323478 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV7577296 rs1407910 0.51 0.304581904 0.4634
hCV2783620 rs7021880 hCV7577311 rs1323473 0.51 0.304581904 0.3885
hCV2783620 rs7021880 hCV7577317 rs1323472 0.51 0.304581904 0.3511
hCV2783620 rs7021880 hCV7577328 rs1323476 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV7577331 rs1468673 0.51 0.304581904 0.3511
hCV2783620 rs7021880 hCV7577332 rs1468672 0.51 0.304581904 0.3506
hCV2783620 rs7021880 hCV7577344 rs876445 0.51 0.304581904 0.9301
hCV2783620 rs7021880 hCV782872 rs758958 0.51 0.304581904 0.3506
hCV2783621 rs2416805 hCV11266229 rs10435844 0.51 0.411716825 1
hCV2783621 rs2416805 hCV11266268 rs10760121 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV11720350 rs2057469 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV11720413 rs1930782 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV11720414 rs1930781 0.51 0.411716825 1
hCV2783621 rs2416805 hCV15849105 rs2900185 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV15849116 rs2900180 0.51 0.411716825 1
hCV2783621 rs2416805 hCV15870898 rs2072438 0.51 0.411716825 0.6467
hCV2783621 rs2416805 hCV16124825 rs2109895 0.51 0.411716825 1
hCV2783621 rs2416805 hCV16175379 rs2239657 0.51 0.411716825 0.9664
hCV2783621 rs2416805 hCV16234795 rs2416804 0.51 0.411716825 0.6341
hCV2783621 rs2416805 hCV16234838 rs2416819 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV16234840 rs2416817 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV1632195 rs1998505 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV1761888 rs1953126 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV1761891 rs1930778 0.51 0.411716825 0.9602
hCV2783621 rs2416805 hCV1761894 rs1609810 0.51 0.411716825 0.9609
hCV2783621 rs2416805 hCV2359565 rs1014530 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV25613469 rs10760157 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV25751916 rs10985070 0.51 0.411716825 0.6467
hCV2783621 rs2416805 hCV25771057 rs10760150 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV2783582 rs10818482 0.51 0.411716825 0.6467
hCV2783621 rs2416805 hCV2783586 rs2270231 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV2783589 rs881375 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV2783590 rs6478486 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV2783591 rs1468671 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783593 rs1548783 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783597 rs1860824 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783599 rs7046108 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783604 rs10760126 0.51 0.411716825 0.6875
hCV2783621 rs2416805 hCV2783607 rs9886724 0.51 0.411716825 0.6785
hCV2783621 rs2416805 hCV2783608 rs4836834 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783609 rs2241003 0.51 0.411716825 0.9321
hCV2783621 rs2416805 hCV2783611 rs10435843 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783618 rs2239658 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783620 rs7021880 0.51 0.411716825 0.9301
hCV2783621 rs2416805 hCV2783622 rs758959 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783625 rs10118357 0.51 0.411716825 0.6645
hCV2783621 rs2416805 hCV2783630 rs2269060 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783633 rs7021049 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783634 rs1014529 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783635 rs1930780 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783638 rs3761846 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783640 rs3761847 0.51 0.411716825 0.6341
hCV2783621 rs2416805 hCV2783641 rs2416806 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783647 rs10739580 0.51 0.411716825 1
hCV2783621 rs2416805 hCV2783650 rs10760129 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783653 rs10760130 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783655 rs10818488 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV2783656 rs4837804 0.51 0.411716825 0.8956
hCV2783621 rs2416805 hCV2783659 rs7039505 0.51 0.411716825 1
hCV2783621 rs2416805 hCV27912350 rs4837808 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV27912351 rs4837809 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV29005923 rs6478494 0.51 0.411716825 0.4238
hCV2783621 rs2416805 hCV29005924 rs7031128 0.51 0.411716825 0.4264
hCV2783621 rs2416805 hCV29005976 rs7037195 0.51 0.411716825 0.6687
hCV2783621 rs2416805 hCV29005978 rs7021206 0.51 0.411716825 1
hCV2783621 rs2416805 hCV29006006 rs7034390 0.51 0.411716825 0.9666
hCV2783621 rs2416805 hCV30059070 rs10156413 0.51 0.411716825 0.5258
hCV2783621 rs2416805 hCV3045792 rs6478499 0.51 0.411716825 0.4879
hCV2783621 rs2416805 hCV3045801 rs2057465 0.51 0.411716825 0.4332
hCV2783621 rs2416805 hCV30563729 rs9299273 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV30830414 rs7871371 0.51 0.411716825 0.417
hCV2783621 rs2416805 hCV30830468 rs10818507 0.51 0.411716825 0.4539
hCV2783621 rs2416805 hCV30830473 rs7036649 0.51 0.411716825 0.4705
hCV2783621 rs2416805 hCV30830475 rs10733652 0.51 0.411716825 0.4269
hCV2783621 rs2416805 hCV30830484 rs10818508 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV30830486 rs10760149 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV30830503 rs4837811 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV30830512 rs10818512 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV30830521 rs10818513 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV30830536 rs7047038 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV30830638 rs10985073 0.51 0.411716825 0.6467
hCV2783621 rs2416805 hCV30830725 rs7864019 0.51 0.411716825 1
hCV2783621 rs2416805 hCV30830832 rs10733648 0.51 0.411716825 1
hCV2783621 rs2416805 hCV30830909 rs11794516 0.51 0.411716825 0.6467
hCV2783621 rs2416805 hCV7577250 rs942153 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV7577271 rs1535655 0.51 0.411716825 0.4465
hCV2783621 rs2416805 hCV7577287 rs1323478 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV7577296 rs1407910 0.51 0.411716825 0.4708
hCV2783621 rs2416805 hCV7577344 rs876445 0.51 0.411716825 1
hCV2783625 rs10118357 hCV11266229 rs10435844 0.51 0.313879134
0.6645 hCV2783625 rs10118357 hCV11266268 rs10760121 0.51
0.313879134 0.6295 hCV2783625 rs10118357 hCV11720351 rs1885995 0.51
0.313879134 0.4886 hCV2783625 rs10118357 hCV11720402 rs17611 0.51
0.313879134 0.3377 hCV2783625 rs10118357 hCV11720413 rs1930782 0.51
0.313879134 1 hCV2783625 rs10118357 hCV11720414 rs1930781 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV1452630 rs10818476 0.51
0.313879134 0.3662 hCV2783625 rs10118357 hCV1452651 rs3793638 0.51
0.313879134 0.3446 hCV2783625 rs10118357 hCV1452652 rs1060817 0.51
0.313879134 0.3446 hCV2783625 rs10118357 hCV1452665 rs4837796 0.51
0.313879134 0.3662 hCV2783625 rs10118357 hCV15751717 rs2296077 0.51
0.313879134 0.4287 hCV2783625 rs10118357 hCV15751719 rs2146838 0.51
0.313879134 0.4886 hCV2783625 rs10118357 hCV15755658 rs2300934 0.51
0.313879134 0.3203 hCV2783625 rs10118357 hCV15757738 rs2302498 0.51
0.313879134 0.4424 hCV2783625 rs10118357 hCV15849116 rs2900180 0.51
0.313879134 0.6587 hCV2783625 rs10118357 hCV15870898 rs2072438 0.51
0.313879134 0.9665 hCV2783625 rs10118357 hCV16124825 rs2109895 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV16175379 rs2239657 0.51
0.313879134 0.6419 hCV2783625 rs10118357 hCV16234785 rs2416811 0.51
0.313879134 0.3377
hCV2783625 rs10118357 hCV16234795 rs2416804 0.51 0.313879134 0.9666
hCV2783625 rs10118357 hCV1761881 rs3933326 0.51 0.313879134 0.3184
hCV2783625 rs10118357 hCV1761888 rs1953126 0.51 0.313879134 0.6295
hCV2783625 rs10118357 hCV1761891 rs1930778 0.51 0.313879134 0.5712
hCV2783625 rs10118357 hCV1761894 rs1609810 0.51 0.313879134 0.6003
hCV2783625 rs10118357 hCV22272588 rs10760117 0.51 0.313879134
0.3662 hCV2783625 rs10118357 hCV2359565 rs1014530 0.51 0.313879134
1 hCV2783625 rs10118357 hCV2359571 rs25681 0.51 0.313879134 0.3377
hCV2783625 rs10118357 hCV25751916 rs10985070 0.51 0.313879134
0.9665 hCV2783625 rs10118357 hCV26144282 rs10818499 0.51
0.313879134 0.3377 hCV2783625 rs10118357 hCV26144291 rs4570235 0.51
0.313879134 0.3377 hCV2783625 rs10118357 hCV26144307 rs1016468 0.51
0.313879134 0.4886 hCV2783625 rs10118357 hCV26144332 rs4837813 0.51
0.313879134 0.4683 hCV2783625 rs10118357 hCV2783582 rs10818482 0.51
0.313879134 0.9665 hCV2783625 rs10118357 hCV2783586 rs2270231 0.51
0.313879134 0.6295 hCV2783625 rs10118357 hCV2783589 rs881375 0.51
0.313879134 0.6295 hCV2783625 rs10118357 hCV2783590 rs6478486 0.51
0.313879134 0.6295 hCV2783625 rs10118357 hCV2783591 rs1468671 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783593 rs1548783 0.51
0.313879134 0.6601 hCV2783625 rs10118357 hCV2783597 rs1860824 0.51
0.313879134 0.6539 hCV2783625 rs10118357 hCV2783599 rs7046108 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783604 rs10760126 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783607 rs9886724 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783608 rs4836834 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783609 rs2241003 0.51
0.313879134 0.7034 hCV2783625 rs10118357 hCV2783611 rs10435843 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783618 rs2239658 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783620 rs7021880 0.51
0.313879134 0.6088 hCV2783625 rs10118357 hCV2783621 rs2416805 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783622 rs758959 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783630 rs2269060 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783633 rs7021049 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783634 rs1014529 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783635 rs1930780 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783638 rs3761846 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783640 rs3761847 0.51
0.313879134 0.9666 hCV2783625 rs10118357 hCV2783641 rs2416806 0.51
0.313879134 0.655 hCV2783625 rs10118357 hCV2783647 rs10739580 0.51
0.313879134 0.6645 hCV2783625 rs10118357 hCV2783650 rs10760129 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783653 rs10760130 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783655 rs10818488 0.51
0.313879134 1 hCV2783625 rs10118357 hCV2783656 rs4837804 0.51
0.313879134 0.775 hCV2783625 rs10118357 hCV2783659 rs7039505 0.51
0.313879134 0.6519 hCV2783625 rs10118357 hCV2783711 rs10733650 0.51
0.313879134 0.3812 hCV2783625 rs10118357 hCV2783718 rs10818500 0.51
0.313879134 0.6661 hCV2783625 rs10118357 hCV29005933 rs7042135 0.51
0.313879134 0.3203 hCV2783625 rs10118357 hCV29005936 rs6478498 0.51
0.313879134 0.3203 hCV2783625 rs10118357 hCV29005955 rs7036980 0.51
0.313879134 0.4221 hCV2783625 rs10118357 hCV29005976 rs7037195 0.51
0.313879134 1 hCV2783625 rs10118357 hCV29005978 rs7021206 0.51
0.313879134 0.6989 hCV2783625 rs10118357 hCV29006006 rs7034390 0.51
0.313879134 0.6295 hCV2783625 rs10118357 hCV29734592 rs10435889
0.51 0.313879134 0.3247 hCV2783625 rs10118357 hCV29879049 rs9792437
0.51 0.313879134 0.4631 hCV2783625 rs10118357 hCV3045812 rs7030849
0.51 0.313879134 0.4631 hCV2783625 rs10118357 hCV30829523
rs12343516 0.51 0.313879134 0.3446 hCV2783625 rs10118357
hCV30830319 rs7037673 0.51 0.313879134 0.5292 hCV2783625 rs10118357
hCV30830325 rs10818494 0.51 0.313879134 0.4255 hCV2783625
rs10118357 hCV30830340 rs10760134 0.51 0.313879134 0.4048
hCV2783625 rs10118357 hCV30830341 rs7040033 0.51 0.313879134 0.4048
hCV2783625 rs10118357 hCV30830415 rs7855998 0.51 0.313879134 0.3203
hCV2783625 rs10118357 hCV30830419 rs10985140 0.51 0.313879134
0.6251 hCV2783625 rs10118357 hCV30830427 rs10760142 0.51
0.313879134 0.3203 hCV2783625 rs10118357 hCV30830474 rs10739590
0.51 0.313879134 0.5432 hCV2783625 rs10118357 hCV30830638
rs10985073 0.51 0.313879134 0.9665 hCV2783625 rs10118357
hCV30830725 rs7864019 0.51 0.313879134 0.6645 hCV2783625 rs10118357
hCV30830832 rs10733648 0.51 0.313879134 0.6645 hCV2783625
rs10118357 hCV30830909 rs11794516 0.51 0.313879134 0.9665
hCV2783625 rs10118357 hCV7577254 rs942152 0.51 0.313879134 0.393
hCV2783625 rs10118357 hCV7577317 rs1323472 0.51 0.313879134 0.6544
hCV2783625 rs10118357 hCV7577331 rs1468673 0.51 0.313879134 0.6544
hCV2783625 rs10118357 hCV7577337 rs993247 0.51 0.313879134 0.3377
hCV2783625 rs10118357 hCV7577344 rs876445 0.51 0.313879134 0.6645
hCV2783625 rs10118357 hCV782875 rs746182 0.51 0.313879134 0.4683
hCV2783633 rs7021049 hCV11266229 rs10435844 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV11266268 rs10760121 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV11720351 rs1885995 0.51 0.313879134 0.472
hCV2783633 rs7021049 hCV11720402 rs17611 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV11720413 rs1930782 0.51 0.313879134 1
hCV2783633 rs7021049 hCV11720414 rs1930781 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV1452630 rs10818476 0.51 0.313879134 0.3495
hCV2783633 rs7021049 hCV1452651 rs3793638 0.51 0.313879134 0.3281
hCV2783633 rs7021049 hCV1452652 rs1060817 0.51 0.313879134 0.3281
hCV2783633 rs7021049 hCV1452665 rs4837796 0.51 0.313879134 0.3495
hCV2783633 rs7021049 hCV15751717 rs2296077 0.51 0.313879134 0.4129
hCV2783633 rs7021049 hCV15751719 rs2146838 0.51 0.313879134 0.472
hCV2783633 rs7021049 hCV15757738 rs2302498 0.51 0.313879134 0.4266
hCV2783633 rs7021049 hCV15849116 rs2900180 0.51 0.313879134 0.6587
hCV2783633 rs7021049 hCV15870898 rs2072438 0.51 0.313879134 0.9671
hCV2783633 rs7021049 hCV16124825 rs2109895 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV16175379 rs2239657 0.51 0.313879134 0.6463
hCV2783633 rs7021049 hCV16234785 rs2416811 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV16234795 rs2416804 0.51 0.313879134 0.9672
hCV2783633 rs7021049 hCV1761881 rs3933326 0.51 0.313879134 0.3254
hCV2783633 rs7021049 hCV1761888 rs1953126 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV1761891 rs1930778 0.51 0.313879134 0.5775
hCV2783633 rs7021049 hCV1761894 rs1609810 0.51 0.313879134 0.6068
hCV2783633 rs7021049 hCV22272588 rs10760117 0.51 0.313879134 0.3495
hCV2783633 rs7021049 hCV2359565 rs1014530 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2359571 rs25681 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV25751916 rs10985070 0.51 0.313879134 0.9671
hCV2783633 rs7021049 hCV26144282 rs10818499 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV26144291 rs4570235 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV26144307 rs1016468 0.51 0.313879134 0.472
hCV2783633 rs7021049 hCV26144332 rs4837813 0.51 0.313879134 0.4513
hCV2783633 rs7021049 hCV2783582 rs10818482 0.51 0.313879134 0.9671
hCV2783633 rs7021049 hCV2783586 rs2270231 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV2783589 rs881375 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV2783590 rs6478486 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV2783591 rs1468671 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783593 rs1548783 0.51 0.313879134 0.6645
hCV2783633 rs7021049 hCV2783597 rs1860824 0.51 0.313879134 0.6581
hCV2783633 rs7021049 hCV2783599 rs7046108 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783604 rs10760126 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783607 rs9886724 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783608 rs4836834 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783609 rs2241003 0.51 0.313879134 0.7074
hCV2783633 rs7021049 hCV2783611 rs10435843 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783618 rs2239658 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783620 rs7021880 0.51 0.313879134 0.6088
hCV2783633 rs7021049 hCV2783621 rs2416805 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783622 rs758959 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783625 rs10118357 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783630 rs2269060 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783634 rs1014529 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783635 rs1930780 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783638 rs3761846 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783640 rs3761847 0.51 0.313879134 0.9672
hCV2783633 rs7021049 hCV2783641 rs2416806 0.51 0.313879134 0.6594
hCV2783633 rs7021049 hCV2783647 rs10739580 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV2783650 rs10760129 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783653 rs10760130 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783655 rs10818488 0.51 0.313879134 1
hCV2783633 rs7021049 hCV2783656 rs4837804 0.51 0.313879134 0.775
hCV2783633 rs7021049 hCV2783659 rs7039505 0.51 0.313879134 0.6562
hCV2783633 rs7021049 hCV2783711 rs10733650 0.51 0.313879134 0.3723
hCV2783633 rs7021049 hCV2783718 rs10818500 0.51 0.313879134 0.6661
hCV2783633 rs7021049 hCV29005955 rs7036980 0.51 0.313879134 0.4056
hCV2783633 rs7021049 hCV29005976 rs7037195 0.51 0.313879134 1
hCV2783633 rs7021049 hCV29005978 rs7021206 0.51 0.313879134 0.7031
hCV2783633 rs7021049 hCV29006006 rs7034390 0.51 0.313879134 0.6344
hCV2783633 rs7021049 hCV29734592 rs10435889 0.51 0.313879134 0.3176
hCV2783633 rs7021049 hCV29879049 rs9792437 0.51 0.313879134 0.4468
hCV2783633 rs7021049 hCV3045812 rs7030849 0.51 0.313879134 0.4468
hCV2783633 rs7021049 hCV30829523 rs12343516 0.51 0.313879134 0.3281
hCV2783633 rs7021049 hCV30830319 rs7037673 0.51 0.313879134 0.517
hCV2783633 rs7021049 hCV30830325 rs10818494 0.51 0.313879134 0.4154
hCV2783633 rs7021049 hCV30830340 rs10760134 0.51 0.313879134 0.3949
hCV2783633 rs7021049 hCV30830341 rs7040033 0.51 0.313879134 0.3949
hCV2783633 rs7021049 hCV30830419 rs10985140 0.51 0.313879134 0.6317
hCV2783633 rs7021049 hCV30830474 rs10739590 0.51 0.313879134 0.5169
hCV2783633 rs7021049 hCV30830638 rs10985073 0.51 0.313879134 0.9671
hCV2783633 rs7021049 hCV30830725 rs7864019 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV30830832 rs10733648 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV30830909 rs11794516 0.51 0.313879134 0.9671
hCV2783633 rs7021049 hCV7577254 rs942152 0.51 0.313879134 0.3797
hCV2783633 rs7021049 hCV7577317 rs1323472 0.51 0.313879134 0.6604
hCV2783633 rs7021049 hCV7577331 rs1468673 0.51 0.313879134 0.6604
hCV2783633 rs7021049 hCV7577337 rs993247 0.51 0.313879134 0.3301
hCV2783633 rs7021049 hCV7577344 rs876445 0.51 0.313879134 0.6687
hCV2783633 rs7021049 hCV782875 rs746182 0.51 0.313879134 0.4513
hCV2783634 rs1014529 hCV11266229 rs10435844 0.51 0.411716825 1
hCV2783634 rs1014529 hCV11266268 rs10760121 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV11720350 rs2057469 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV11720413 rs1930782 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV11720414 rs1930781 0.51 0.411716825 1
hCV2783634 rs1014529 hCV15849105 rs2900185 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV15849116 rs2900180 0.51 0.411716825 1
hCV2783634 rs1014529 hCV15870898 rs2072438 0.51 0.411716825 0.6467
hCV2783634 rs1014529 hCV16124825 rs2109895 0.51 0.411716825 1
hCV2783634 rs1014529 hCV16175379 rs2239657 0.51 0.411716825 0.9664
hCV2783634 rs1014529 hCV16234795 rs2416804 0.51 0.411716825 0.6341
hCV2783634 rs1014529 hCV16234838 rs2416819 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV16234840 rs2416817 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV1632195 rs1998505 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV1761888 rs1953126 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV1761891 rs1930778 0.51 0.411716825 0.9602
hCV2783634 rs1014529 hCV1761894 rs1609810 0.51 0.411716825 0.9609
hCV2783634 rs1014529 hCV2359565 rs1014530 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV25613469 rs10760157 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV25751916 rs10985070 0.51 0.411716825 0.6467
hCV2783634 rs1014529 hCV25771057 rs10760150 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV2783582 rs10818482 0.51 0.411716825 0.6467
hCV2783634 rs1014529 hCV2783586 rs2270231 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV2783589 rs881375 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV2783590 rs6478486 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV2783591 rs1468671 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783593 rs1548783 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783597 rs1860824 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783599 rs7046108 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783604 rs10760126 0.51 0.411716825 0.6875
hCV2783634 rs1014529 hCV2783607 rs9886724 0.51 0.411716825 0.6785
hCV2783634 rs1014529 hCV2783608 rs4836834 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783609 rs2241003 0.51 0.411716825 0.9321
hCV2783634 rs1014529 hCV2783611 rs10435843 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783618 rs2239658 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783620 rs7021880 0.51 0.411716825 0.9301
hCV2783634 rs1014529 hCV2783621 rs2416805 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783622 rs758959 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783625 rs10118357 0.51 0.411716825 0.6645
hCV2783634 rs1014529 hCV2783630 rs2269060 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783633 rs7021049 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783635 rs1930780 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783638 rs3761846 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783640 rs3761847 0.51 0.411716825 0.6341
hCV2783634 rs1014529 hCV2783641 rs2416806 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783647 rs10739580 0.51 0.411716825 1
hCV2783634 rs1014529 hCV2783650 rs10760129 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783653 rs10760130 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783655 rs10818488 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV2783656 rs4837804 0.51 0.411716825 0.8956
hCV2783634 rs1014529 hCV2783659 rs7039505 0.51 0.411716825 1
hCV2783634 rs1014529 hCV27912350 rs4837808 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV27912351 rs4837809 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV29005923 rs6478494 0.51 0.411716825 0.4238
hCV2783634 rs1014529 hCV29005924 rs7031128 0.51 0.411716825 0.4264
hCV2783634 rs1014529 hCV29005976 rs7037195 0.51 0.411716825 0.6687
hCV2783634 rs1014529 hCV29005978 rs7021206 0.51 0.411716825 1
hCV2783634 rs1014529 hCV29006006 rs7034390 0.51 0.411716825 0.9666
hCV2783634 rs1014529 hCV30059070 rs10156413 0.51 0.411716825 0.5258
hCV2783634 rs1014529 hCV3045792 rs6478499 0.51 0.411716825 0.4879
hCV2783634 rs1014529 hCV3045801 rs2057465 0.51 0.411716825 0.4332
hCV2783634 rs1014529 hCV30563729 rs9299273 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV30830414 rs7871371 0.51 0.411716825 0.417
hCV2783634 rs1014529 hCV30830468 rs10818507 0.51 0.411716825 0.4539
hCV2783634 rs1014529 hCV30830473 rs7036649 0.51 0.411716825 0.4705
hCV2783634 rs1014529 hCV30830475 rs10733652 0.51 0.411716825 0.4269
hCV2783634 rs1014529 hCV30830484 rs10818508 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV30830486 rs10760149 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV30830503 rs4837811 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV30830512 rs10818512 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV30830521 rs10818513 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV30830536 rs7047038 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV30830638 rs10985073 0.51 0.411716825 0.6467
hCV2783634 rs1014529 hCV30830725 rs7864019 0.51 0.411716825 1
hCV2783634 rs1014529 hCV30830832 rs10733648 0.51 0.411716825 1
hCV2783634 rs1014529 hCV30830909 rs11794516 0.51 0.411716825 0.6467
hCV2783634 rs1014529 hCV7577250 rs942153 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV7577271 rs1535655 0.51 0.411716825 0.4465
hCV2783634 rs1014529 hCV7577287 rs1323478 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV7577296 rs1407910 0.51 0.411716825 0.4708
hCV2783634 rs1014529 hCV7577344 rs876445 0.51 0.411716825 1
hCV2783638 rs3761846 hCV11266229 rs10435844 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV11266268 rs10760121 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV11720351 rs1885995 0.51 0.329406037 0.472
hCV2783638 rs3761846 hCV11720402 rs17611 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV11720413 rs1930782 0.51 0.329406037 1
hCV2783638 rs3761846 hCV11720414 rs1930781 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV1452630 rs10818476 0.51 0.329406037 0.3495
hCV2783638 rs3761846 hCV1452665 rs4837796 0.51 0.329406037 0.3495
hCV2783638 rs3761846 hCV15751717 rs2296077 0.51 0.329406037 0.4129
hCV2783638 rs3761846 hCV15751719 rs2146838 0.51 0.329406037
0.472
hCV2783638 rs3761846 hCV15757738 rs2302498 0.51 0.329406037 0.4266
hCV2783638 rs3761846 hCV15849116 rs2900180 0.51 0.329406037 0.6587
hCV2783638 rs3761846 hCV15870898 rs2072438 0.51 0.329406037 0.9671
hCV2783638 rs3761846 hCV16124825 rs2109895 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV16175379 rs2239657 0.51 0.329406037 0.6463
hCV2783638 rs3761846 hCV16234785 rs2416811 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV16234795 rs2416804 0.51 0.329406037 0.9672
hCV2783638 rs3761846 hCV1761888 rs1953126 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV1761891 rs1930778 0.51 0.329406037 0.5775
hCV2783638 rs3761846 hCV1761894 rs1609810 0.51 0.329406037 0.6068
hCV2783638 rs3761846 hCV22272588 rs10760117 0.51 0.329406037 0.3495
hCV2783638 rs3761846 hCV2359565 rs1014530 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2359571 rs25681 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV25751916 rs10985070 0.51 0.329406037 0.9671
hCV2783638 rs3761846 hCV26144282 rs10818499 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV26144291 rs4570235 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV26144307 rs1016468 0.51 0.329406037 0.472
hCV2783638 rs3761846 hCV26144332 rs4837813 0.51 0.329406037 0.4513
hCV2783638 rs3761846 hCV2783582 rs10818482 0.51 0.329406037 0.9671
hCV2783638 rs3761846 hCV2783586 rs2270231 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV2783589 rs881375 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV2783590 rs6478486 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV2783591 rs1468671 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783593 rs1548783 0.51 0.329406037 0.6645
hCV2783638 rs3761846 hCV2783597 rs1860824 0.51 0.329406037 0.6581
hCV2783638 rs3761846 hCV2783599 rs7046108 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783604 rs10760126 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783607 rs9886724 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783608 rs4836834 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783609 rs2241003 0.51 0.329406037 0.7074
hCV2783638 rs3761846 hCV2783611 rs10435843 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783618 rs2239658 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783620 rs7021880 0.51 0.329406037 0.6088
hCV2783638 rs3761846 hCV2783621 rs2416805 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783622 rs758959 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783625 rs10118357 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783630 rs2269060 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783633 rs7021049 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783634 rs1014529 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783635 rs1930780 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783640 rs3761847 0.51 0.329406037 0.9672
hCV2783638 rs3761846 hCV2783641 rs2416806 0.51 0.329406037 0.6594
hCV2783638 rs3761846 hCV2783647 rs10739580 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV2783650 rs10760129 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783653 rs10760130 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783655 rs10818488 0.51 0.329406037 1
hCV2783638 rs3761846 hCV2783656 rs4837804 0.51 0.329406037 0.775
hCV2783638 rs3761846 hCV2783659 rs7039505 0.51 0.329406037 0.6562
hCV2783638 rs3761846 hCV2783711 rs10733650 0.51 0.329406037 0.3723
hCV2783638 rs3761846 hCV2783718 rs10818500 0.51 0.329406037 0.6661
hCV2783638 rs3761846 hCV29005955 rs7036980 0.51 0.329406037 0.4056
hCV2783638 rs3761846 hCV29005976 rs7037195 0.51 0.329406037 1
hCV2783638 rs3761846 hCV29005978 rs7021206 0.51 0.329406037 0.7031
hCV2783638 rs3761846 hCV29006006 rs7034390 0.51 0.329406037 0.6344
hCV2783638 rs3761846 hCV29879049 rs9792437 0.51 0.329406037 0.4468
hCV2783638 rs3761846 hCV3045812 rs7030849 0.51 0.329406037 0.4468
hCV2783638 rs3761846 hCV30830319 rs7037673 0.51 0.329406037 0.517
hCV2783638 rs3761846 hCV30830325 rs10818494 0.51 0.329406037 0.4154
hCV2783638 rs3761846 hCV30830340 rs10760134 0.51 0.329406037 0.3949
hCV2783638 rs3761846 hCV30830341 rs7040033 0.51 0.329406037 0.3949
hCV2783638 rs3761846 hCV30830419 rs10985140 0.51 0.329406037 0.6317
hCV2783638 rs3761846 hCV30830474 rs10739590 0.51 0.329406037 0.5169
hCV2783638 rs3761846 hCV30830638 rs10985073 0.51 0.329406037 0.9671
hCV2783638 rs3761846 hCV30830725 rs7864019 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV30830832 rs10733648 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV30830909 rs11794516 0.51 0.329406037 0.9671
hCV2783638 rs3761846 hCV7577254 rs942152 0.51 0.329406037 0.3797
hCV2783638 rs3761846 hCV7577317 rs1323472 0.51 0.329406037 0.6604
hCV2783638 rs3761846 hCV7577331 rs1468673 0.51 0.329406037 0.6604
hCV2783638 rs3761846 hCV7577337 rs993247 0.51 0.329406037 0.3301
hCV2783638 rs3761846 hCV7577344 rs876445 0.51 0.329406037 0.6687
hCV2783638 rs3761846 hCV782875 rs746182 0.51 0.329406037 0.4513
hCV2783641 rs2416806 hCV11266229 rs10435844 0.51 0.450433113 1
hCV2783641 rs2416806 hCV11266268 rs10760121 0.51 0.450433113 1
hCV2783641 rs2416806 hCV11720350 rs2057469 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV11720413 rs1930782 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV11720414 rs1930781 0.51 0.450433113 1
hCV2783641 rs2416806 hCV15849105 rs2900185 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV15849116 rs2900180 0.51 0.450433113 1
hCV2783641 rs2416806 hCV15870898 rs2072438 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV16124825 rs2109895 0.51 0.450433113 1
hCV2783641 rs2416806 hCV16175379 rs2239657 0.51 0.450433113 0.9652
hCV2783641 rs2416806 hCV16234795 rs2416804 0.51 0.450433113 0.6235
hCV2783641 rs2416806 hCV16234838 rs2416819 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV16234840 rs2416817 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV1632195 rs1998505 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV1761888 rs1953126 0.51 0.450433113 1
hCV2783641 rs2416806 hCV1761891 rs1930778 0.51 0.450433113 1
hCV2783641 rs2416806 hCV1761894 rs1609810 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2359565 rs1014530 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV25613469 rs10760157 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV25751916 rs10985070 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV25771057 rs10760150 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV2783582 rs10818482 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783586 rs2270231 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783589 rs881375 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783590 rs6478486 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783591 rs1468671 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783593 rs1548783 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783597 rs1860824 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783599 rs7046108 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783604 rs10760126 0.51 0.450433113 0.6785
hCV2783641 rs2416806 hCV2783607 rs9886724 0.51 0.450433113 0.6785
hCV2783641 rs2416806 hCV2783608 rs4836834 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783609 rs2241003 0.51 0.450433113 0.9321
hCV2783641 rs2416806 hCV2783611 rs10435843 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783618 rs2239658 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783620 rs7021880 0.51 0.450433113 0.9275
hCV2783641 rs2416806 hCV2783621 rs2416805 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783622 rs758959 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783625 rs10118357 0.51 0.450433113 0.655
hCV2783641 rs2416806 hCV2783630 rs2269060 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783633 rs7021049 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783634 rs1014529 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783635 rs1930780 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783638 rs3761846 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783640 rs3761847 0.51 0.450433113 0.6235
hCV2783641 rs2416806 hCV2783647 rs10739580 0.51 0.450433113 1
hCV2783641 rs2416806 hCV2783650 rs10760129 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783653 rs10760130 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783655 rs10818488 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV2783656 rs4837804 0.51 0.450433113 0.8918
hCV2783641 rs2416806 hCV2783659 rs7039505 0.51 0.450433113 1
hCV2783641 rs2416806 hCV27912350 rs4837808 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV27912351 rs4837809 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV29005976 rs7037195 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV29005978 rs7021206 0.51 0.450433113 1
hCV2783641 rs2416806 hCV29006006 rs7034390 0.51 0.450433113 1
hCV2783641 rs2416806 hCV30059070 rs10156413 0.51 0.450433113 0.5429
hCV2783641 rs2416806 hCV3045792 rs6478499 0.51 0.450433113 0.4996
hCV2783641 rs2416806 hCV30563729 rs9299273 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV30830468 rs10818507 0.51 0.450433113 0.4643
hCV2783641 rs2416806 hCV30830473 rs7036649 0.51 0.450433113 0.4829
hCV2783641 rs2416806 hCV30830484 rs10818508 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV30830486 rs10760149 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV30830503 rs4837811 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV30830512 rs10818512 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV30830521 rs10818513 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV30830536 rs7047038 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV30830638 rs10985073 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV30830725 rs7864019 0.51 0.450433113 1
hCV2783641 rs2416806 hCV30830832 rs10733648 0.51 0.450433113 1
hCV2783641 rs2416806 hCV30830909 rs11794516 0.51 0.450433113 0.6594
hCV2783641 rs2416806 hCV7577250 rs942153 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV7577271 rs1535655 0.51 0.450433113 0.4561
hCV2783641 rs2416806 hCV7577287 rs1323478 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV7577296 rs1407910 0.51 0.450433113 0.4819
hCV2783641 rs2416806 hCV7577344 rs876445 0.51 0.450433113 1
hCV2783653 rs10760130 hCV11266229 rs10435844 0.51 0.410057696
0.6687 hCV2783653 rs10760130 hCV11266268 rs10760121 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV11720351 rs1885995 0.51
0.410057696 0.472 hCV2783653 rs10760130 hCV11720413 rs1930782 0.51
0.410057696 1 hCV2783653 rs10760130 hCV11720414 rs1930781 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV15751717 rs2296077 0.51
0.410057696 0.4129 hCV2783653 rs10760130 hCV15751719 rs2146838 0.51
0.410057696 0.472 hCV2783653 rs10760130 hCV15757738 rs2302498 0.51
0.410057696 0.4266 hCV2783653 rs10760130 hCV15849116 rs2900180 0.51
0.410057696 0.6587 hCV2783653 rs10760130 hCV15870898 rs2072438 0.51
0.410057696 0.9671 hCV2783653 rs10760130 hCV16124825 rs2109895 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV16175379 rs2239657 0.51
0.410057696 0.6463 hCV2783653 rs10760130 hCV16234795 rs2416804 0.51
0.410057696 0.9672 hCV2783653 rs10760130 hCV1761888 rs1953126 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV1761891 rs1930778 0.51
0.410057696 0.5775 hCV2783653 rs10760130 hCV1761894 rs1609810 0.51
0.410057696 0.6068 hCV2783653 rs10760130 hCV2359565 rs1014530 0.51
0.410057696 1 hCV2783653 rs10760130 hCV25751916 rs10985070 0.51
0.410057696 0.9671 hCV2783653 rs10760130 hCV26144307 rs1016468 0.51
0.410057696 0.472 hCV2783653 rs10760130 hCV26144332 rs4837813 0.51
0.410057696 0.4513 hCV2783653 rs10760130 hCV2783582 rs10818482 0.51
0.410057696 0.9671 hCV2783653 rs10760130 hCV2783586 rs2270231 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV2783589 rs881375 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV2783590 rs6478486 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV2783591 rs1468671 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783593 rs1548783 0.51
0.410057696 0.6645 hCV2783653 rs10760130 hCV2783597 rs1860824 0.51
0.410057696 0.6581 hCV2783653 rs10760130 hCV2783599 rs7046108 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783604 rs10760126 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783607 rs9886724 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783608 rs4836834 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783609 rs2241003 0.51
0.410057696 0.7074 hCV2783653 rs10760130 hCV2783611 rs10435843 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783618 rs2239658 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783620 rs7021880 0.51
0.410057696 0.6088 hCV2783653 rs10760130 hCV2783621 rs2416805 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783622 rs758959 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783625 rs10118357 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783630 rs2269060 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783633 rs7021049 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783634 rs1014529 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783635 rs1930780 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783638 rs3761846 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783640 rs3761847 0.51
0.410057696 0.9672 hCV2783653 rs10760130 hCV2783641 rs2416806 0.51
0.410057696 0.6594 hCV2783653 rs10760130 hCV2783647 rs10739580 0.51
0.410057696 0.6687 hCV2783653 rs10760130 hCV2783650 rs10760129 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783655 rs10818488 0.51
0.410057696 1 hCV2783653 rs10760130 hCV2783656 rs4837804 0.51
0.410057696 0.775 hCV2783653 rs10760130 hCV2783659 rs7039505 0.51
0.410057696 0.6562 hCV2783653 rs10760130 hCV2783718 rs10818500 0.51
0.410057696 0.6661 hCV2783653 rs10760130 hCV29005976 rs7037195 0.51
0.410057696 1 hCV2783653 rs10760130 hCV29005978 rs7021206 0.51
0.410057696 0.7031 hCV2783653 rs10760130 hCV29006006 rs7034390 0.51
0.410057696 0.6344 hCV2783653 rs10760130 hCV29879049 rs9792437 0.51
0.410057696 0.4468 hCV2783653 rs10760130 hCV3045812 rs7030849 0.51
0.410057696 0.4468 hCV2783653 rs10760130 hCV30830319 rs7037673 0.51
0.410057696 0.517 hCV2783653 rs10760130 hCV30830325 rs10818494 0.51
0.410057696 0.4154 hCV2783653 rs10760130 hCV30830419 rs10985140
0.51 0.410057696 0.6317 hCV2783653 rs10760130 hCV30830474
rs10739590 0.51 0.410057696 0.5169 hCV2783653 rs10760130
hCV30830638 rs10985073 0.51 0.410057696 0.9671 hCV2783653
rs10760130 hCV30830725 rs7864019 0.51 0.410057696 0.6687 hCV2783653
rs10760130 hCV30830832 rs10733648 0.51 0.410057696 0.6687
hCV2783653 rs10760130 hCV30830909 rs11794516 0.51 0.410057696
0.9671 hCV2783653 rs10760130 hCV7577317 rs1323472 0.51 0.410057696
0.6604 hCV2783653 rs10760130 hCV7577331 rs1468673 0.51 0.410057696
0.6604 hCV2783653 rs10760130 hCV7577344 rs876445 0.51 0.410057696
0.6687 hCV2783653 rs10760130 hCV782875 rs746182 0.51 0.410057696
0.4513 hCV2783655 rs10818488 hCV11266229 rs10435844 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV11266268 rs10760121
0.51 0.366210234 0.6344 hCV2783655 rs10818488 hCV11720351 rs1885995
0.51 0.366210234 0.472 hCV2783655 rs10818488 hCV11720413 rs1930782
0.51 0.366210234 1 hCV2783655 rs10818488 hCV11720414 rs1930781 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV15751717 rs2296077 0.51
0.366210234 0.4129 hCV2783655 rs10818488 hCV15751719 rs2146838 0.51
0.366210234 0.472 hCV2783655 rs10818488 hCV15757738 rs2302498 0.51
0.366210234 0.4266 hCV2783655 rs10818488 hCV15849116 rs2900180 0.51
0.366210234 0.6587 hCV2783655 rs10818488 hCV15870898 rs2072438 0.51
0.366210234 0.9671 hCV2783655 rs10818488 hCV16124825 rs2109895 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV16175379 rs2239657 0.51
0.366210234 0.6463 hCV2783655 rs10818488 hCV16234795 rs2416804 0.51
0.366210234 0.9672 hCV2783655 rs10818488 hCV1761888 rs1953126 0.51
0.366210234 0.6344 hCV2783655 rs10818488 hCV1761891 rs1930778 0.51
0.366210234 0.5775 hCV2783655 rs10818488 hCV1761894 rs1609810 0.51
0.366210234 0.6068 hCV2783655 rs10818488 hCV2359565 rs1014530 0.51
0.366210234 1 hCV2783655 rs10818488 hCV25751916 rs10985070 0.51
0.366210234 0.9671 hCV2783655 rs10818488 hCV26144307 rs1016468 0.51
0.366210234 0.472 hCV2783655 rs10818488 hCV26144332 rs4837813 0.51
0.366210234 0.4513 hCV2783655 rs10818488 hCV2783582 rs10818482 0.51
0.366210234 0.9671 hCV2783655 rs10818488 hCV2783586 rs2270231 0.51
0.366210234 0.6344 hCV2783655 rs10818488 hCV2783589 rs881375 0.51
0.366210234 0.6344 hCV2783655 rs10818488 hCV2783590 rs6478486 0.51
0.366210234 0.6344 hCV2783655 rs10818488 hCV2783591 rs1468671 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV2783593 rs1548783 0.51
0.366210234 0.6645 hCV2783655 rs10818488 hCV2783597 rs1860824 0.51
0.366210234 0.6581 hCV2783655 rs10818488 hCV2783599 rs7046108 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV2783604 rs10760126 0.51
0.366210234 1 hCV2783655 rs10818488 hCV2783607 rs9886724 0.51
0.366210234 1 hCV2783655 rs10818488 hCV2783608 rs4836834 0.51
0.366210234 1 hCV2783655 rs10818488 hCV2783609 rs2241003 0.51
0.366210234 0.7074 hCV2783655 rs10818488 hCV2783611 rs10435843 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV2783618 rs2239658 0.51
0.366210234 0.6687 hCV2783655 rs10818488 hCV2783620 rs7021880 0.51
0.366210234 0.6088
hCV2783655 rs10818488 hCV2783621 rs2416805 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV2783622 rs758959 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV2783625 rs10118357 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783630 rs2269060 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783633 rs7021049 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783634 rs1014529 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV2783635 rs1930780 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV2783638 rs3761846 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783640 rs3761847 0.51 0.366210234 0.9672
hCV2783655 rs10818488 hCV2783641 rs2416806 0.51 0.366210234 0.6594
hCV2783655 rs10818488 hCV2783647 rs10739580 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV2783650 rs10760129 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783653 rs10760130 0.51 0.366210234 1
hCV2783655 rs10818488 hCV2783656 rs4837804 0.51 0.366210234 0.775
hCV2783655 rs10818488 hCV2783659 rs7039505 0.51 0.366210234 0.6562
hCV2783655 rs10818488 hCV2783711 rs10733650 0.51 0.366210234 0.3723
hCV2783655 rs10818488 hCV2783718 rs10818500 0.51 0.366210234 0.6661
hCV2783655 rs10818488 hCV29005955 rs7036980 0.51 0.366210234 0.4056
hCV2783655 rs10818488 hCV29005976 rs7037195 0.51 0.366210234 1
hCV2783655 rs10818488 hCV29005978 rs7021206 0.51 0.366210234 0.7031
hCV2783655 rs10818488 hCV29006006 rs7034390 0.51 0.366210234 0.6344
hCV2783655 rs10818488 hCV29879049 rs9792437 0.51 0.366210234 0.4468
hCV2783655 rs10818488 hCV3045812 rs7030849 0.51 0.366210234 0.4468
hCV2783655 rs10818488 hCV30830319 rs7037673 0.51 0.366210234 0.517
hCV2783655 rs10818488 hCV30830325 rs10818494 0.51 0.366210234
0.4154 hCV2783655 rs10818488 hCV30830340 rs10760134 0.51
0.366210234 0.3949 hCV2783655 rs10818488 hCV30830341 rs7040033 0.51
0.366210234 0.3949 hCV2783655 rs10818488 hCV30830419 rs10985140
0.51 0.366210234 0.6317 hCV2783655 rs10818488 hCV30830474
rs10739590 0.51 0.366210234 0.5169 hCV2783655 rs10818488
hCV30830638 rs10985073 0.51 0.366210234 0.9671 hCV2783655
rs10818488 hCV30830725 rs7864019 0.51 0.366210234 0.6687 hCV2783655
rs10818488 hCV30830832 rs10733648 0.51 0.366210234 0.6687
hCV2783655 rs10818488 hCV30830909 rs11794516 0.51 0.366210234
0.9671 hCV2783655 rs10818488 hCV7577254 rs942152 0.51 0.366210234
0.3797 hCV2783655 rs10818488 hCV7577317 rs1323472 0.51 0.366210234
0.6604 hCV2783655 rs10818488 hCV7577331 rs1468673 0.51 0.366210234
0.6604 hCV2783655 rs10818488 hCV7577344 rs876445 0.51 0.366210234
0.6687 hCV2783655 rs10818488 hCV782875 rs746182 0.51 0.366210234
0.4513 hCV2783677 rs2269066 hCV2783682 rs7861142 0.51 0.847112965 1
hCV29005933 rs7042135 hCV11720402 rs17611 0.51 0.926005625 0.9646
hCV29005933 rs7042135 hCV15755658 rs2300934 0.51 0.926005625 1
hCV29005933 rs7042135 hCV16234785 rs2416811 0.51 0.926005625 0.9646
hCV29005933 rs7042135 hCV2359571 rs25681 0.51 0.926005625 0.9646
hCV29005933 rs7042135 hCV26144282 rs10818499 0.51 0.926005625
0.9646 hCV29005933 rs7042135 hCV26144291 rs4570235 0.51 0.926005625
0.9646 hCV29005933 rs7042135 hCV2783711 rs10733650 0.51 0.926005625
0.9646 hCV29005933 rs7042135 hCV29005936 rs6478498 0.51 0.926005625
1 hCV29005933 rs7042135 hCV29734592 rs10435889 0.51 0.926005625
0.9635 hCV29005933 rs7042135 hCV30167357 rs7022941 0.51 0.926005625
0.928 hCV29005933 rs7042135 hCV30830415 rs7855998 0.51 0.926005625
1 hCV29005933 rs7042135 hCV30830427 rs10760142 0.51 0.926005625 1
hCV29005933 rs7042135 hCV7577337 rs993247 0.51 0.926005625 0.9646
hCV29005978 rs7021206 hCV11266229 rs10435844 0.51 0.423423973 1
hCV29005978 rs7021206 hCV11266268 rs10760121 0.51 0.423423973
0.9651 hCV29005978 rs7021206 hCV11720350 rs2057469 0.51 0.423423973
0.4264 hCV29005978 rs7021206 hCV11720413 rs1930782 0.51 0.423423973
0.7031 hCV29005978 rs7021206 hCV11720414 rs1930781 0.51 0.423423973
1 hCV29005978 rs7021206 hCV15849105 rs2900185 0.51 0.423423973
0.4516 hCV29005978 rs7021206 hCV15849116 rs2900180 0.51 0.423423973
1 hCV29005978 rs7021206 hCV15870898 rs2072438 0.51 0.423423973
0.6788 hCV29005978 rs7021206 hCV16124825 rs2109895 0.51 0.423423973
1 hCV29005978 rs7021206 hCV16175379 rs2239657 0.51 0.423423973
0.9649 hCV29005978 rs7021206 hCV16234795 rs2416804 0.51 0.423423973
0.6666 hCV29005978 rs7021206 hCV16234838 rs2416819 0.51 0.423423973
0.4264 hCV29005978 rs7021206 hCV16234840 rs2416817 0.51 0.423423973
0.4516 hCV29005978 rs7021206 hCV1632195 rs1998505 0.51 0.423423973
0.4516 hCV29005978 rs7021206 hCV1761888 rs1953126 0.51 0.423423973
0.9651 hCV29005978 rs7021206 hCV1761891 rs1930778 0.51 0.423423973
0.9582 hCV29005978 rs7021206 hCV1761894 rs1609810 0.51 0.423423973
0.9588 hCV29005978 rs7021206 hCV2359565 rs1014530 0.51 0.423423973
0.7031 hCV29005978 rs7021206 hCV25613469 rs10760157 0.51
0.423423973 0.4264 hCV29005978 rs7021206 hCV25751916 rs10985070
0.51 0.423423973 0.6788 hCV29005978 rs7021206 hCV25771057
rs10760150 0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV2783582
rs10818482 0.51 0.423423973 0.6788 hCV29005978 rs7021206 hCV2783586
rs2270231 0.51 0.423423973 0.9651 hCV29005978 rs7021206 hCV2783589
rs881375 0.51 0.423423973 0.9651 hCV29005978 rs7021206 hCV2783590
rs6478486 0.51 0.423423973 0.9651 hCV29005978 rs7021206 hCV2783591
rs1468671 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783593
rs1548783 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783597
rs1860824 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783599
rs7046108 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783604
rs10760126 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783607
rs9886724 0.51 0.423423973 0.6941 hCV29005978 rs7021206 hCV2783608
rs4836834 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783609
rs2241003 0.51 0.423423973 0.929 hCV29005978 rs7021206 hCV2783611
rs10435843 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783618
rs2239658 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783620
rs7021880 0.51 0.423423973 0.9271 hCV29005978 rs7021206 hCV2783621
rs2416805 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783622
rs758959 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783625
rs10118357 0.51 0.423423973 0.6989 hCV29005978 rs7021206 hCV2783630
rs2269060 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783633
rs7021049 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783634
rs1014529 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783635
rs1930780 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783638
rs3761846 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783640
rs3761847 0.51 0.423423973 0.6666 hCV29005978 rs7021206 hCV2783641
rs2416806 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783647
rs10739580 0.51 0.423423973 1 hCV29005978 rs7021206 hCV2783650
rs10760129 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783653
rs10760130 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783655
rs10818488 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV2783656
rs4837804 0.51 0.423423973 0.8925 hCV29005978 rs7021206 hCV2783659
rs7039505 0.51 0.423423973 1 hCV29005978 rs7021206 hCV27912350
rs4837808 0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV27912351
rs4837809 0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV29005923
rs6478494 0.51 0.423423973 0.4284 hCV29005978 rs7021206 hCV29005976
rs7037195 0.51 0.423423973 0.7031 hCV29005978 rs7021206 hCV29006006
rs7034390 0.51 0.423423973 0.9651 hCV29005978 rs7021206 hCV30059070
rs10156413 0.51 0.423423973 0.5069 hCV29005978 rs7021206 hCV3045792
rs6478499 0.51 0.423423973 0.4687 hCV29005978 rs7021206 hCV30563729
rs9299273 0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV30830468
rs10818507 0.51 0.423423973 0.4324 hCV29005978 rs7021206
hCV30830473 rs7036649 0.51 0.423423973 0.4503 hCV29005978 rs7021206
hCV30830484 rs10818508 0.51 0.423423973 0.4516 hCV29005978
rs7021206 hCV30830486 rs10760149 0.51 0.423423973 0.4516
hCV29005978 rs7021206 hCV30830503 rs4837811 0.51 0.423423973 0.4516
hCV29005978 rs7021206 hCV30830512 rs10818512 0.51 0.423423973
0.4264 hCV29005978 rs7021206 hCV30830521 rs10818513 0.51
0.423423973 0.4264 hCV29005978 rs7021206 hCV30830536 rs7047038 0.51
0.423423973 0.4264 hCV29005978 rs7021206 hCV30830638 rs10985073
0.51 0.423423973 0.6788 hCV29005978 rs7021206 hCV30830725 rs7864019
0.51 0.423423973 1 hCV29005978 rs7021206 hCV30830832 rs10733648
0.51 0.423423973 1 hCV29005978 rs7021206 hCV30830909 rs11794516
0.51 0.423423973 0.6788 hCV29005978 rs7021206 hCV7577250 rs942153
0.51 0.423423973 0.4264 hCV29005978 rs7021206 hCV7577271 rs1535655
0.51 0.423423973 0.4264 hCV29005978 rs7021206 hCV7577287 rs1323478
0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV7577296 rs1407910
0.51 0.423423973 0.4516 hCV29005978 rs7021206 hCV7577344 rs876445
0.51 0.423423973 1 hCV29006006 rs7034390 hCV11266229 rs10435844
0.51 0.424658012 0.9666 hCV29006006 rs7034390 hCV11266268
rs10760121 0.51 0.424658012 1 hCV29006006 rs7034390 hCV11720350
rs2057469 0.51 0.424658012 0.4734 hCV29006006 rs7034390 hCV11720394
rs1924081 0.51 0.424658012 0.4414 hCV29006006 rs7034390 hCV11720413
rs1930782 0.51 0.424658012 0.6344 hCV29006006 rs7034390 hCV11720414
rs1930781 0.51 0.424658012 0.9666 hCV29006006 rs7034390 hCV15849105
rs2900185 0.51 0.424658012 0.4989 hCV29006006 rs7034390 hCV15849116
rs2900180 0.51 0.424658012 0.9622 hCV29006006 rs7034390 hCV15870898
rs2072438 0.51 0.424658012 0.6691 hCV29006006 rs7034390 hCV16124825
rs2109895 0.51 0.424658012 0.9666 hCV29006006 rs7034390 hCV16175379
rs2239657 0.51 0.424658012 0.9341 hCV29006006 rs7034390 hCV16234795
rs2416804 0.51 0.424658012 0.6014 hCV29006006 rs7034390 hCV16234838
rs2416819 0.51 0.424658012 0.4734 hCV29006006 rs7034390 hCV16234840
rs2416817 0.51 0.424658012 0.4989 hCV29006006 rs7034390 hCV1632195
rs1998505 0.51 0.424658012 0.4989 hCV29006006 rs7034390 hCV1761888
rs1953126 0.51 0.424658012 1 hCV29006006 rs7034390 hCV1761891
rs1930778 0.51 0.424658012 1 hCV29006006 rs7034390 hCV1761894
rs1609810 0.51 0.424658012 1 hCV29006006 rs7034390 hCV2359565
rs1014530 0.51 0.424658012 0.6344 hCV29006006 rs7034390 hCV25472748
rs10760138 0.51 0.424658012 0.4328 hCV29006006 rs7034390
hCV25613469 rs10760157 0.51 0.424658012 0.4734 hCV29006006
rs7034390 hCV25751916 rs10985070 0.51 0.424658012 0.6691
hCV29006006 rs7034390 hCV25771057 rs10760150 0.51 0.424658012
0.4989 hCV29006006 rs7034390 hCV2783582 rs10818482 0.51 0.424658012
0.6691 hCV29006006 rs7034390 hCV2783586 rs2270231 0.51 0.424658012
1 hCV29006006 rs7034390 hCV2783589 rs881375 0.51 0.424658012 1
hCV29006006 rs7034390 hCV2783590 rs6478486 0.51 0.424658012 1
hCV29006006 rs7034390 hCV2783591 rs1468671 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783593 rs1548783 0.51 0.424658012 0.9661
hCV29006006 rs7034390 hCV2783597 rs1860824 0.51 0.424658012 0.965
hCV29006006 rs7034390 hCV2783599 rs7046108 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783604 rs10760126 0.51 0.424658012 0.6526
hCV29006006 rs7034390 hCV2783607 rs9886724 0.51 0.424658012 0.6785
hCV29006006 rs7034390 hCV2783608 rs4836834 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783609 rs2241003 0.51 0.424658012 0.9321
hCV29006006 rs7034390 hCV2783611 rs10435843 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783618 rs2239658 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783620 rs7021880 0.51 0.424658012 0.8974
hCV29006006 rs7034390 hCV2783621 rs2416805 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783622 rs758959 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783625 rs10118357 0.51 0.424658012 0.6295
hCV29006006 rs7034390 hCV2783630 rs2269060 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783633 rs7021049 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783634 rs1014529 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783635 rs1930780 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783638 rs3761846 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783640 rs3761847 0.51 0.424658012 0.6014
hCV29006006 rs7034390 hCV2783641 rs2416806 0.51 0.424658012 1
hCV29006006 rs7034390 hCV2783647 rs10739580 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV2783650 rs10760129 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783653 rs10760130 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783655 rs10818488 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV2783656 rs4837804 0.51 0.424658012 0.8593
hCV29006006 rs7034390 hCV2783659 rs7039505 0.51 0.424658012 0.9615
hCV29006006 rs7034390 hCV27912350 rs4837808 0.51 0.424658012 0.4989
hCV29006006 rs7034390 hCV27912351 rs4837809 0.51 0.424658012 0.4989
hCV29006006 rs7034390 hCV29005922 rs7033790 0.51 0.424658012 0.4414
hCV29006006 rs7034390 hCV29005923 rs6478494 0.51 0.424658012 0.4648
hCV29006006 rs7034390 hCV29005924 rs7031128 0.51 0.424658012 0.4729
hCV29006006 rs7034390 hCV29005931 rs6478496 0.51 0.424658012 0.4414
hCV29006006 rs7034390 hCV29005976 rs7037195 0.51 0.424658012 0.6344
hCV29006006 rs7034390 hCV29005978 rs7021206 0.51 0.424658012 0.9651
hCV29006006 rs7034390 hCV30059070 rs10156413 0.51 0.424658012
0.5621 hCV29006006 rs7034390 hCV3045792 rs6478499 0.51 0.424658012
0.5164 hCV29006006 rs7034390 hCV3045801 rs2057465 0.51 0.424658012
0.4611 hCV29006006 rs7034390 hCV30563728 rs10156396 0.51
0.424658012 0.429 hCV29006006 rs7034390 hCV30563729 rs9299273 0.51
0.424658012 0.4989 hCV29006006 rs7034390 hCV30830395 rs10985132
0.51 0.424658012 0.4414 hCV29006006 rs7034390 hCV30830397
rs10760139 0.51 0.424658012 0.4414 hCV29006006 rs7034390
hCV30830406 rs7040603 0.51 0.424658012 0.4414 hCV29006006 rs7034390
hCV30830407 rs10739585 0.51 0.424658012 0.4414 hCV29006006
rs7034390 hCV30830414 rs7871371 0.51 0.424658012 0.4541 hCV29006006
rs7034390 hCV30830417 rs7029523 0.51 0.424658012 0.4414 hCV29006006
rs7034390 hCV30830468 rs10818507 0.51 0.424658012 0.4819
hCV29006006 rs7034390 hCV30830473 rs7036649 0.51 0.424658012 0.5014
hCV29006006 rs7034390 hCV30830475 rs10733652 0.51 0.424658012
0.4539 hCV29006006 rs7034390 hCV30830484 rs10818508 0.51
0.424658012 0.4989 hCV29006006 rs7034390 hCV30830486 rs10760149
0.51 0.424658012 0.4989 hCV29006006 rs7034390 hCV30830503 rs4837811
0.51 0.424658012 0.4989 hCV29006006 rs7034390 hCV30830512
rs10818512 0.51 0.424658012 0.4734 hCV29006006 rs7034390
hCV30830521 rs10818513 0.51 0.424658012 0.4734 hCV29006006
rs7034390 hCV30830536 rs7047038 0.51 0.424658012 0.4734 hCV29006006
rs7034390 hCV30830638 rs10985073 0.51 0.424658012 0.6691
hCV29006006 rs7034390 hCV30830725 rs7864019 0.51 0.424658012 0.9666
hCV29006006 rs7034390 hCV30830832 rs10733648 0.51 0.424658012
0.9666 hCV29006006 rs7034390 hCV30830909 rs11794516 0.51
0.424658012 0.6691 hCV29006006 rs7034390 hCV7577250 rs942153 0.51
0.424658012 0.4734 hCV29006006 rs7034390 hCV7577271 rs1535655 0.51
0.424658012 0.4734 hCV29006006 rs7034390 hCV7577287 rs1323478 0.51
0.424658012 0.4989 hCV29006006 rs7034390 hCV7577296 rs1407910 0.51
0.424658012 0.4989 hCV29006006 rs7034390 hCV7577311 rs1323473 0.51
0.424658012 0.4466 hCV29006006 rs7034390 hCV7577328 rs1323476 0.51
0.424658012 0.4414 hCV29006006 rs7034390 hCV7577332 rs1468672 0.51
0.424658012 0.4414 hCV29006006 rs7034390 hCV7577344 rs876445 0.51
0.424658012 0.9666 hCV29006006 rs7034390 hCV782872 rs758958 0.51
0.424658012 0.4414 hCV29824827 rs9657673 hCV11720383 rs1951784 0.51
0.754211179 1 hCV29824827 rs9657673 hCV11720402 rs17611 0.51
0.754211179 0.9251 hCV29824827 rs9657673 hCV15751718 rs2296078 0.51
0.754211179 0.9628 hCV29824827 rs9657673 hCV15755658 rs2300934 0.51
0.754211179 0.8884 hCV29824827 rs9657673 hCV16110109 rs2078141 0.51
0.754211179 0.8177 hCV29824827 rs9657673 hCV16234785 rs2416811 0.51
0.754211179 0.9251 hCV29824827 rs9657673 hCV1632190 rs10760146 0.51
0.754211179 1 hCV29824827 rs9657673 hCV2359571 rs25681 0.51
0.754211179 0.9251 hCV29824827 rs9657673 hCV25968825 rs10818504
0.51 0.754211179 1 hCV29824827 rs9657673 hCV26144282 rs10818499
0.51 0.754211179 0.9251 hCV29824827 rs9657673 hCV26144291 rs4570235
0.51 0.754211179 0.9251 hCV29824827 rs9657673 hCV26144296
rs10760143 0.51 0.754211179 1 hCV29824827 rs9657673 hCV27476319
rs3747843 0.51 0.754211179 0.9628 hCV29824827 rs9657673 hCV2783711
rs10733650 0.51 0.754211179 0.925 hCV29824827 rs9657673 hCV29005933
rs7042135 0.51 0.754211179 0.8884 hCV29824827 rs9657673 hCV29005936
rs6478498 0.51 0.754211179 0.8884 hCV29824827 rs9657673 hCV29734592
rs10435889 0.51 0.754211179 0.9226 hCV29824827 rs9657673
hCV30041036 rs10156476 0.51 0.754211179 1 hCV29824827 rs9657673
hCV30167357 rs7022941 0.51 0.754211179 1 hCV29824827 rs9657673
hCV3045797 rs7036541 0.51 0.754211179 1 hCV29824827 rs9657673
hCV3045800 rs3736855 0.51 0.754211179 1 hCV29824827 rs9657673
hCV3045804 rs2057467 0.51 0.754211179 0.9467 hCV29824827 rs9657673
hCV3045808 rs10818516 0.51 0.754211179 0.9252 hCV29824827 rs9657673
hCV3045810 rs2209076 0.51 0.754211179 0.9274 hCV29824827 rs9657673
hCV30830340 rs10760134 0.51 0.754211179 0.8185 hCV29824827
rs9657673 hCV30830341 rs7040033 0.51 0.754211179 0.8185 hCV29824827
rs9657673 hCV30830415 rs7855998 0.51 0.754211179 0.8884
hCV29824827 rs9657673 hCV30830427 rs10760142 0.51 0.754211179
0.8884 hCV29824827 rs9657673 hCV30830440 rs10760144 0.51
0.754211179 1 hCV29824827 rs9657673 hCV30830506 rs10760151 0.51
0.754211179 1 hCV29824827 rs9657673 hCV30830537 rs10818515 0.51
0.754211179 0.9624 hCV29824827 rs9657673 hCV30830539 rs10760153
0.51 0.754211179 0.9621 hCV29824827 rs9657673 hCV30830540
rs10760154 0.51 0.754211179 0.9628 hCV29824827 rs9657673
hCV30830541 rs10760155 0.51 0.754211179 0.9628 hCV29824827
rs9657673 hCV30830542 rs10760156 0.51 0.754211179 0.9603
hCV29824827 rs9657673 hCV7577235 rs1052508 0.51 0.754211179 0.9628
hCV29824827 rs9657673 hCV7577248 rs1359086 0.51 0.754211179 0.9274
hCV29824827 rs9657673 hCV7577249 rs1359085 0.51 0.754211179 0.9628
hCV29824827 rs9657673 hCV7577337 rs993247 0.51 0.754211179 0.9251
hCV30167357 rs7022941 hCV11720383 rs1951784 0.51 0.885510667 1
hCV30167357 rs7022941 hCV11720402 rs17611 0.51 0.885510667 0.9642
hCV30167357 rs7022941 hCV15751718 rs2296078 0.51 0.885510667 0.9642
hCV30167357 rs7022941 hCV15755658 rs2300934 0.51 0.885510667 0.928
hCV30167357 rs7022941 hCV16234785 rs2416811 0.51 0.885510667 0.9642
hCV30167357 rs7022941 hCV1632190 rs10760146 0.51 0.885510667 1
hCV30167357 rs7022941 hCV2359571 rs25681 0.51 0.885510667 0.9642
hCV30167357 rs7022941 hCV25968825 rs10818504 0.51 0.885510667 1
hCV30167357 rs7022941 hCV26144282 rs10818499 0.51 0.885510667
0.9642 hCV30167357 rs7022941 hCV26144291 rs4570235 0.51 0.885510667
0.9642 hCV30167357 rs7022941 hCV26144296 rs10760143 0.51
0.885510667 1 hCV30167357 rs7022941 hCV27476319 rs3747843 0.51
0.885510667 0.9642 hCV30167357 rs7022941 hCV2783711 rs10733650 0.51
0.885510667 0.9642 hCV30167357 rs7022941 hCV29005933 rs7042135 0.51
0.885510667 0.928 hCV30167357 rs7022941 hCV29005936 rs6478498 0.51
0.885510667 0.928 hCV30167357 rs7022941 hCV29734592 rs10435889 0.51
0.885510667 0.9632 hCV30167357 rs7022941 hCV29824827 rs9657673 0.51
0.885510667 1 hCV30167357 rs7022941 hCV30041036 rs10156476 0.51
0.885510667 1 hCV30167357 rs7022941 hCV3045797 rs7036541 0.51
0.885510667 1 hCV30167357 rs7022941 hCV3045800 rs3736855 0.51
0.885510667 1 hCV30167357 rs7022941 hCV3045804 rs2057467 0.51
0.885510667 0.9467 hCV30167357 rs7022941 hCV3045808 rs10818516 0.51
0.885510667 0.928 hCV30167357 rs7022941 hCV3045810 rs2209076 0.51
0.885510667 0.9301 hCV30167357 rs7022941 hCV30830415 rs7855998 0.51
0.885510667 0.928 hCV30167357 rs7022941 hCV30830427 rs10760142 0.51
0.885510667 0.928 hCV30167357 rs7022941 hCV30830440 rs10760144 0.51
0.885510667 1 hCV30167357 rs7022941 hCV30830506 rs10760151 0.51
0.885510667 1 hCV30167357 rs7022941 hCV30830537 rs10818515 0.51
0.885510667 0.9639 hCV30167357 rs7022941 hCV30830539 rs10760153
0.51 0.885510667 0.9642 hCV30167357 rs7022941 hCV30830540
rs10760154 0.51 0.885510667 0.9642 hCV30167357 rs7022941
hCV30830541 rs10760155 0.51 0.885510667 0.9642 hCV30167357
rs7022941 hCV30830542 rs10760156 0.51 0.885510667 0.962 hCV30167357
rs7022941 hCV7577235 rs1052508 0.51 0.885510667 0.9642 hCV30167357
rs7022941 hCV7577248 rs1359086 0.51 0.885510667 0.9301 hCV30167357
rs7022941 hCV7577249 rs1359085 0.51 0.885510667 0.9642 hCV30167357
rs7022941 hCV7577337 rs993247 0.51 0.885510667 0.9642 hCV3045797
rs7036541 hCV11720383 rs1951784 0.51 0.968215659 1 hCV3045797
rs7036541 hCV1632190 rs10760146 0.51 0.968215659 1 hCV3045797
rs7036541 hCV25968825 rs10818504 0.51 0.968215659 1 hCV3045797
rs7036541 hCV26144296 rs10760143 0.51 0.968215659 1 hCV3045797
rs7036541 hCV29824827 rs9657673 0.51 0.968215659 1 hCV3045797
rs7036541 hCV30041036 rs10156476 0.51 0.968215659 1 hCV3045797
rs7036541 hCV30167357 rs7022941 0.51 0.968215659 1 hCV3045797
rs7036541 hCV3045800 rs3736855 0.51 0.968215659 1 hCV3045797
rs7036541 hCV30830440 rs10760144 0.51 0.968215659 1 hCV3045797
rs7036541 hCV30830506 rs10760151 0.51 0.968215659 1 hCV30830506
rs10760151 hCV11720383 rs1951784 0.51 0.852515741 1 hCV30830506
rs10760151 hCV11720402 rs17611 0.51 0.852515741 0.9293 hCV30830506
rs10760151 hCV15751718 rs2296078 0.51 0.852515741 0.9649
hCV30830506 rs10760151 hCV15755658 rs2300934 0.51 0.852515741
0.8947 hCV30830506 rs10760151 hCV16234785 rs2416811 0.51
0.852515741 0.9293 hCV30830506 rs10760151 hCV1632190 rs10760146
0.51 0.852515741 1 hCV30830506 rs10760151 hCV2359571 rs25681 0.51
0.852515741 0.9293 hCV30830506 rs10760151 hCV25968825 rs10818504
0.51 0.852515741 1 hCV30830506 rs10760151 hCV26144282 rs10818499
0.51 0.852515741 0.9293 hCV30830506 rs10760151 hCV26144291
rs4570235 0.51 0.852515741 0.9293 hCV30830506 rs10760151
hCV26144296 rs10760143 0.51 0.852515741 1 hCV30830506 rs10760151
hCV27476319 rs3747843 0.51 0.852515741 0.9649 hCV30830506
rs10760151 hCV2783711 rs10733650 0.51 0.852515741 0.9293
hCV30830506 rs10760151 hCV29005933 rs7042135 0.51 0.852515741
0.8947 hCV30830506 rs10760151 hCV29005936 rs6478498 0.51
0.852515741 0.8947 hCV30830506 rs10760151 hCV29734592 rs10435889
0.51 0.852515741 0.9272 hCV30830506 rs10760151 hCV29824827
rs9657673 0.51 0.852515741 1 hCV30830506 rs10760151 hCV30041036
rs10156476 0.51 0.852515741 1 hCV30830506 rs10760151 hCV30167357
rs7022941 0.51 0.852515741 1 hCV30830506 rs10760151 hCV3045797
rs7036541 0.51 0.852515741 1 hCV30830506 rs10760151 hCV3045800
rs3736855 0.51 0.852515741 1 hCV30830506 rs10760151 hCV3045804
rs2057467 0.51 0.852515741 0.9484 hCV30830506 rs10760151 hCV3045808
rs10818516 0.51 0.852515741 0.9294 hCV30830506 rs10760151
hCV3045810 rs2209076 0.51 0.852515741 0.9314 hCV30830506 rs10760151
hCV30830415 rs7855998 0.51 0.852515741 0.8947 hCV30830506
rs10760151 hCV30830427 rs10760142 0.51 0.852515741 0.8947
hCV30830506 rs10760151 hCV30830440 rs10760144 0.51 0.852515741 1
hCV30830506 rs10760151 hCV30830537 rs10818515 0.51 0.852515741
0.9646 hCV30830506 rs10760151 hCV30830539 rs10760153 0.51
0.852515741 0.9642 hCV30830506 rs10760151 hCV30830540 rs10760154
0.51 0.852515741 0.9649 hCV30830506 rs10760151 hCV30830541
rs10760155 0.51 0.852515741 0.9649 hCV30830506 rs10760151
hCV30830542 rs10760156 0.51 0.852515741 0.9628 hCV30830506
rs10760151 hCV7577235 rs1052508 0.51 0.852515741 0.9649 hCV30830506
rs10760151 hCV7577248 rs1359086 0.51 0.852515741 0.9314 hCV30830506
rs10760151 hCV7577249 rs1359085 0.51 0.852515741 0.9649 hCV30830506
rs10760151 hCV7577337 rs993247 0.51 0.852515741 0.9293 hCV30830539
rs10760153 hCV11720383 rs1951784 0.51 0.927552814 0.9642
hCV30830539 rs10760153 hCV11720402 rs17611 0.51 0.927552814 0.9287
hCV30830539 rs10760153 hCV15751718 rs2296078 0.51 0.927552814 1
hCV30830539 rs10760153 hCV16234785 rs2416811 0.51 0.927552814
0.9287 hCV30830539 rs10760153 hCV1632190 rs10760146 0.51
0.927552814 0.9642 hCV30830539 rs10760153 hCV2359571 rs25681 0.51
0.927552814 0.9287 hCV30830539 rs10760153 hCV25968825 rs10818504
0.51 0.927552814 0.9642 hCV30830539 rs10760153 hCV26144282
rs10818499 0.51 0.927552814 0.9287 hCV30830539 rs10760153
hCV26144291 rs4570235 0.51 0.927552814 0.9287 hCV30830539
rs10760153 hCV26144296 rs10760143 0.51 0.927552814 0.9635
hCV30830539 rs10760153 hCV27476319 rs3747843 0.51 0.927552814
0.9287 hCV30830539 rs10760153 hCV2783711 rs10733650 0.51
0.927552814 0.9286 hCV30830539 rs10760153 hCV29824827 rs9657673
0.51 0.927552814 0.9621 hCV30830539 rs10760153 hCV30041036
rs10156476 0.51 0.927552814 0.9639 hCV30830539 rs10760153
hCV30167357 rs7022941 0.51 0.927552814 0.9642 hCV30830539
rs10760153 hCV3045797 rs7036541 0.51 0.927552814 0.9632 hCV30830539
rs10760153 hCV3045800 rs3736855 0.51 0.927552814 0.9642 hCV30830539
rs10760153 hCV3045808 rs10818516 0.51 0.927552814 0.9635
hCV30830539 rs10760153 hCV3045810 rs2209076 0.51 0.927552814 0.9646
hCV30830539 rs10760153 hCV30830440 rs10760144 0.51 0.927552814
0.9642 hCV30830539 rs10760153 hCV30830506 rs10760151 0.51
0.927552814 0.9642 hCV30830539 rs10760153 hCV30830537 rs10818515
0.51 0.927552814 1 hCV30830539 rs10760153 hCV30830540 rs10760154
0.51 0.927552814 1 hCV30830539 rs10760153 hCV30830541 rs10760155
0.51 0.927552814 1 hCV30830539 rs10760153 hCV30830542 rs10760156
0.51 0.927552814 1 hCV30830539 rs10760153 hCV7577235 rs1052508 0.51
0.927552814 1 hCV30830539 rs10760153 hCV7577248 rs1359086 0.51
0.927552814 0.9646 hCV30830539 rs10760153 hCV7577249 rs1359085 0.51
0.927552814 1 hCV30830539 rs10760153 hCV7577337 rs993247 0.51
0.927552814 0.9287 hCV30830638 rs10985073 hCV11266229 rs10435844
0.51 0.367429713 0.6467 hCV30830638 rs10985073 hCV11266268
rs10760121 0.51 0.367429713 0.6691 hCV30830638 rs10985073
hCV11720351 rs1885995 0.51 0.367429713 0.4963 hCV30830638
rs10985073 hCV11720413 rs1930782 0.51 0.367429713 0.9671
hCV30830638 rs10985073 hCV11720414 rs1930781 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV1452630 rs10818476 0.51
0.367429713 0.3756 hCV30830638 rs10985073 hCV1452665 rs4837796 0.51
0.367429713 0.3756 hCV30830638 rs10985073 hCV15751717 rs2296077
0.51 0.367429713 0.4374 hCV30830638 rs10985073 hCV15751719
rs2146838 0.51 0.367429713 0.4963 hCV30830638 rs10985073
hCV15757738 rs2302498 0.51 0.367429713 0.4505 hCV30830638
rs10985073 hCV15849116 rs2900180 0.51 0.367429713 0.6342
hCV30830638 rs10985073 hCV15870898 rs2072438 0.51 0.367429713 1
hCV30830638 rs10985073 hCV16124825 rs2109895 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV16175379 rs2239657 0.51
0.367429713 0.625 hCV30830638 rs10985073 hCV16234795 rs2416804 0.51
0.367429713 0.9353 hCV30830638 rs10985073 hCV1761888 rs1953126 0.51
0.367429713 0.6691 hCV30830638 rs10985073 hCV1761891 rs1930778 0.51
0.367429713 0.6222 hCV30830638 rs10985073 hCV1761894 rs1609810 0.51
0.367429713 0.6485 hCV30830638 rs10985073 hCV22272588 rs10760117
0.51 0.367429713 0.3756 hCV30830638 rs10985073 hCV2359565 rs1014530
0.51 0.367429713 0.9671 hCV30830638 rs10985073 hCV25751916
rs10985070 0.51 0.367429713 1 hCV30830638 rs10985073 hCV26144307
rs1016468 0.51 0.367429713 0.4963 hCV30830638 rs10985073
hCV26144332 rs4837813 0.51 0.367429713 0.4761 hCV30830638
rs10985073 hCV2783582 rs10818482 0.51 0.367429713 1 hCV30830638
rs10985073 hCV2783586 rs2270231 0.51 0.367429713 0.6691 hCV30830638
rs10985073 hCV2783589 rs881375 0.51 0.367429713 0.6691 hCV30830638
rs10985073 hCV2783590 rs6478486 0.51 0.367429713 0.6691 hCV30830638
rs10985073 hCV2783591 rs1468671 0.51 0.367429713 0.6467 hCV30830638
rs10985073 hCV2783593 rs1548783 0.51 0.367429713 0.6423 hCV30830638
rs10985073 hCV2783597 rs1860824 0.51 0.367429713 0.6357 hCV30830638
rs10985073 hCV2783599 rs7046108 0.51 0.367429713 0.6467 hCV30830638
rs10985073 hCV2783604 rs10760126 0.51 0.367429713 0.9666
hCV30830638 rs10985073 hCV2783607 rs9886724 0.51 0.367429713 1
hCV30830638 rs10985073 hCV2783608 rs4836834 0.51 0.367429713 0.9671
hCV30830638 rs10985073 hCV2783609 rs2241003 0.51 0.367429713 0.7074
hCV30830638 rs10985073 hCV2783611 rs10435843 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV2783618 rs2239658 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV2783620 rs7021880 0.51 0.367429713
0.5878 hCV30830638 rs10985073 hCV2783621 rs2416805 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV2783622 rs758959 0.51 0.367429713
0.6467 hCV30830638 rs10985073 hCV2783625 rs10118357 0.51
0.367429713 0.9665 hCV30830638 rs10985073 hCV2783630 rs2269060 0.51
0.367429713 0.9671 hCV30830638 rs10985073 hCV2783633 rs7021049 0.51
0.367429713 0.9671 hCV30830638 rs10985073 hCV2783634 rs1014529 0.51
0.367429713 0.6467 hCV30830638 rs10985073 hCV2783635 rs1930780 0.51
0.367429713 0.6467 hCV30830638 rs10985073 hCV2783638 rs3761846 0.51
0.367429713 0.9671 hCV30830638 rs10985073 hCV2783640 rs3761847 0.51
0.367429713 0.9353 hCV30830638 rs10985073 hCV2783641 rs2416806 0.51
0.367429713 0.6594 hCV30830638 rs10985073 hCV2783647 rs10739580
0.51 0.367429713 0.6467 hCV30830638 rs10985073 hCV2783650
rs10760129 0.51 0.367429713 0.9671 hCV30830638 rs10985073
hCV2783653 rs10760130 0.51 0.367429713 0.9671 hCV30830638
rs10985073 hCV2783655 rs10818488 0.51 0.367429713 0.9671
hCV30830638 rs10985073 hCV2783656 rs4837804 0.51 0.367429713 0.7472
hCV30830638 rs10985073 hCV2783659 rs7039505 0.51 0.367429713 0.6319
hCV30830638 rs10985073 hCV2783711 rs10733650 0.51 0.367429713
0.3903 hCV30830638 rs10985073 hCV2783718 rs10818500 0.51
0.367429713 0.6972 hCV30830638 rs10985073 hCV29005955 rs7036980
0.51 0.367429713 0.4304 hCV30830638 rs10985073 hCV29005976
rs7037195 0.51 0.367429713 0.9671 hCV30830638 rs10985073
hCV29005978 rs7021206 0.51 0.367429713 0.6788 hCV30830638
rs10985073 hCV29006006 rs7034390 0.51 0.367429713 0.6691
hCV30830638 rs10985073 hCV29879049 rs9792437 0.51 0.367429713
0.4711 hCV30830638 rs10985073 hCV3045812 rs7030849 0.51 0.367429713
0.4711 hCV30830638 rs10985073 hCV30830319 rs7037673 0.51
0.367429713 0.5359 hCV30830638 rs10985073 hCV30830325 rs10818494
0.51 0.367429713 0.4346 hCV30830638 rs10985073 hCV30830340
rs10760134 0.51 0.367429713 0.4135 hCV30830638 rs10985073
hCV30830341 rs7040033 0.51 0.367429713 0.4135 hCV30830638
rs10985073 hCV30830419 rs10985140 0.51 0.367429713 0.6598
hCV30830638 rs10985073 hCV30830474 rs10739590 0.51 0.367429713
0.5521 hCV30830638 rs10985073 hCV30830725 rs7864019 0.51
0.367429713 0.6467 hCV30830638 rs10985073 hCV30830832 rs10733648
0.51 0.367429713 0.6467 hCV30830638 rs10985073 hCV30830909
rs11794516 0.51 0.367429713 1 hCV30830638 rs10985073 hCV7577254
rs942152 0.51 0.367429713 0.4017 hCV30830638 rs10985073 hCV7577317
rs1323472 0.51 0.367429713 0.6896 hCV30830638 rs10985073 hCV7577331
rs1468673 0.51 0.367429713 0.6896 hCV30830638 rs10985073 hCV7577344
rs876445 0.51 0.367429713 0.6467 hCV30830638 rs10985073 hCV782875
rs746182 0.51 0.367429713 0.4761 hCV30830641 rs4837839 hCV11266055
rs4837823 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV11493945
rs1865542 0.51 0.518235842 0.8942 hCV30830641 rs4837839 hCV11840647
rs10985194 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219008
rs7028970 0.51 0.518235842 0.8923 hCV30830641 rs4837839 hCV1219009
rs3747850 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219010
rs7870797 0.51 0.518235842 0.8896 hCV30830641 rs4837839 hCV1219011
rs3761856 0.51 0.518235842 0.7553 hCV30830641 rs4837839 hCV1219013
rs10760169 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219014
rs4837832 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219022
rs880823 0.51 0.518235842 0.8139 hCV30830641 rs4837839 hCV1219023
rs878691 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219024
rs10760167 0.51 0.518235842 0.8948 hCV30830641 rs4837839 hCV1219026
rs963003 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219027
rs10818524 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219038
rs10760159 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219040
rs10985188 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219042
rs7865779 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV1219043
rs10760161 0.51 0.518235842 0.9293 hCV30830641 rs4837839 hCV1219044
rs10818517 0.51 0.518235842 0.9293 hCV30830641 rs4837839 hCV1434290
rs2416829 0.51 0.518235842 0.6292 hCV30830641 rs4837839 hCV15830840
rs2149805 0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV25988184
rs10985200 0.51 0.518235842 0.8829 hCV30830641 rs4837839
hCV26144347 rs10760158 0.51 0.518235842 0.7446 hCV30830641
rs4837839 hCV26144352 rs10760160 0.51 0.518235842 0.8942
hCV30830641 rs4837839 hCV26144367 rs3827678 0.51 0.518235842 0.8522
hCV30830641 rs4837839 hCV26144368 rs4836845 0.51 0.518235842 0.8888
hCV30830641 rs4837839 hCV27492705 rs3810942 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV27912354 rs4836847 0.51 0.518235842 0.8942
hCV30830641 rs4837839 hCV27912355 rs4837834 0.51 0.518235842 0.7919
hCV30830641 rs4837839 hCV27967328 rs4836848 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV27988905 rs4836843 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV28010799 rs4240466 0.51 0.518235842 0.8948
hCV30830641 rs4837839 hCV28010800 rs4837827 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV28032606 rs4837818 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV28032607 rs4556152 0.51 0.518235842 0.8942
hCV30830641 rs4837839 hCV28032608 rs4837835 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV2973085 rs10818523 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV2973086 rs10513365 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV30830586 rs10760162 0.51 0.518235842
0.8223 hCV30830641 rs4837839 hCV30830588 rs4837819 0.51 0.518235842
0.8961 hCV30830641 rs4837839 hCV30830589 rs10760163 0.51
0.518235842 0.8961 hCV30830641 rs4837839 hCV30830590 rs4837820 0.51
0.518235842 0.8961 hCV30830641 rs4837839 hCV30830591 rs10760164
0.51 0.518235842 0.8942 hCV30830641 rs4837839 hCV30830597 rs4836842
0.51 0.518235842 0.8961 hCV30830641 rs4837839 hCV30830606
rs10739593 0.51 0.518235842 0.8961 hCV30830641 rs4837839
hCV30830607 rs10760165 0.51 0.518235842 0.8961 hCV30830641
rs4837839 hCV30830609 rs4837826 0.51 0.518235842 0.8961 hCV30830641
rs4837839 hCV30830616 rs13292100 0.51 0.518235842 0.8619
hCV30830641 rs4837839 hCV578200 rs767769 0.51 0.518235842 0.6913
hCV30830641 rs4837839 hCV7577193 rs913763 0.51 0.518235842 0.8961
hCV30830641 rs4837839 hCV8605563 rs10739594 0.51 0.518235842 0.8961
hCV30830725 rs7864019 hCV11266229 rs10435844 0.51 0.424658012 1
hCV30830725 rs7864019 hCV11266268 rs10760121 0.51 0.424658012
0.9666 hCV30830725 rs7864019 hCV11720350 rs2057469 0.51 0.424658012
0.4465 hCV30830725 rs7864019 hCV11720413 rs1930782 0.51 0.424658012
0.6687 hCV30830725 rs7864019 hCV11720414 rs1930781 0.51 0.424658012
1 hCV30830725 rs7864019 hCV15849105 rs2900185 0.51 0.424658012
0.4708 hCV30830725 rs7864019 hCV15849116 rs2900180 0.51 0.424658012
1 hCV30830725 rs7864019 hCV15870898 rs2072438 0.51 0.424658012
0.6467 hCV30830725 rs7864019 hCV16124825 rs2109895 0.51 0.424658012
1 hCV30830725 rs7864019 hCV16175379 rs2239657 0.51 0.424658012
0.9664 hCV30830725 rs7864019 hCV16234795 rs2416804 0.51 0.424658012
0.6341 hCV30830725 rs7864019 hCV16234838 rs2416819 0.51 0.424658012
0.4465 hCV30830725 rs7864019 hCV16234840 rs2416817 0.51 0.424658012
0.4708 hCV30830725 rs7864019 hCV1632195 rs1998505 0.51 0.424658012
0.4708 hCV30830725 rs7864019 hCV1761888 rs1953126 0.51 0.424658012
0.9666 hCV30830725 rs7864019 hCV1761891 rs1930778 0.51 0.424658012
0.9602 hCV30830725 rs7864019 hCV1761894 rs1609810 0.51 0.424658012
0.9609 hCV30830725 rs7864019 hCV2359565 rs1014530 0.51 0.424658012
0.6687 hCV30830725 rs7864019 hCV25613469 rs10760157 0.51
0.424658012 0.4465 hCV30830725 rs7864019 hCV25751916 rs10985070
0.51 0.424658012 0.6467 hCV30830725 rs7864019 hCV25771057
rs10760150 0.51 0.424658012 0.4708 hCV30830725 rs7864019 hCV2783582
rs10818482 0.51 0.424658012 0.6467 hCV30830725 rs7864019 hCV2783586
rs2270231 0.51 0.424658012 0.9666 hCV30830725 rs7864019 hCV2783589
rs881375 0.51 0.424658012 0.9666 hCV30830725 rs7864019 hCV2783590
rs6478486 0.51 0.424658012 0.9666 hCV30830725 rs7864019 hCV2783591
rs1468671 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783593
rs1548783 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783597
rs1860824 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783599
rs7046108 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783604
rs10760126 0.51 0.424658012 0.6875 hCV30830725 rs7864019 hCV2783607
rs9886724 0.51 0.424658012 0.6785 hCV30830725 rs7864019 hCV2783608
rs4836834 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783609
rs2241003 0.51 0.424658012 0.9321 hCV30830725 rs7864019 hCV2783611
rs10435843 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783618
rs2239658 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783620
rs7021880 0.51 0.424658012 0.9301 hCV30830725 rs7864019 hCV2783621
rs2416805 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783622
rs758959 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783625
rs10118357 0.51 0.424658012 0.6645 hCV30830725 rs7864019 hCV2783630
rs2269060 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783633
rs7021049 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783634
rs1014529 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783635
rs1930780 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783638
rs3761846 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783640
rs3761847 0.51 0.424658012 0.6341 hCV30830725 rs7864019 hCV2783641
rs2416806 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783647
rs10739580 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783650
rs10760129 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783653
rs10760130 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783655
rs10818488 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783656
rs4837804 0.51 0.424658012 0.8956 hCV30830725 rs7864019 hCV2783659
rs7039505 0.51 0.424658012 1 hCV30830725 rs7864019 hCV27912350
rs4837808 0.51 0.424658012 0.4708 hCV30830725 rs7864019 hCV27912351
rs4837809 0.51 0.424658012 0.4708 hCV30830725 rs7864019 hCV29005924
rs7031128 0.51 0.424658012 0.4264 hCV30830725 rs7864019 hCV29005976
rs7037195 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV29005978
rs7021206 0.51 0.424658012 1 hCV30830725 rs7864019 hCV29006006
rs7034390 0.51 0.424658012 0.9666 hCV30830725 rs7864019 hCV30059070
rs10156413 0.51 0.424658012 0.5258 hCV30830725 rs7864019 hCV3045792
rs6478499 0.51 0.424658012 0.4879 hCV30830725 rs7864019 hCV3045801
rs2057465 0.51 0.424658012 0.4332 hCV30830725 rs7864019 hCV30563729
rs9299273 0.51 0.424658012 0.4708 hCV30830725 rs7864019 hCV30830468
rs10818507 0.51 0.424658012 0.4539 hCV30830725 rs7864019
hCV30830473 rs7036649 0.51 0.424658012 0.4705 hCV30830725 rs7864019
hCV30830475 rs10733652 0.51 0.424658012 0.4269 hCV30830725
rs7864019 hCV30830484 rs10818508 0.51 0.424658012 0.4708
hCV30830725 rs7864019 hCV30830486 rs10760149 0.51 0.424658012
0.4708 hCV30830725 rs7864019 hCV30830503 rs4837811 0.51 0.424658012
0.4708 hCV30830725 rs7864019 hCV30830512 rs10818512 0.51
0.424658012 0.4465 hCV30830725 rs7864019 hCV30830521 rs10818513
0.51 0.424658012 0.4465 hCV30830725 rs7864019 hCV30830536 rs7047038
0.51 0.424658012 0.4465 hCV30830725 rs7864019 hCV30830638
rs10985073 0.51 0.424658012 0.6467 hCV30830725 rs7864019
hCV30830832 rs10733648 0.51 0.424658012 1 hCV30830725 rs7864019
hCV30830909 rs11794516 0.51 0.424658012 0.6467 hCV30830725
rs7864019 hCV7577250 rs942153 0.51 0.424658012 0.4465 hCV30830725
rs7864019 hCV7577271 rs1535655 0.51 0.424658012 0.4465 hCV30830725
rs7864019 hCV7577287 rs1323478 0.51 0.424658012 0.4708 hCV30830725
rs7864019 hCV7577296 rs1407910 0.51 0.424658012 0.4708 hCV30830725
rs7864019 hCV7577344 rs876445 0.51 0.424658012 1 hCV7577317
rs1323472 hCV11720351 rs1885995 0.51 0.765562317 0.78 hCV7577317
rs1323472 hCV15751719 rs2146838 0.51 0.765562317 0.78 hCV7577317
rs1323472 hCV26144307 rs1016468 0.51 0.765562317 0.78 hCV7577317
rs1323472 hCV2783718 rs10818500 0.51 0.765562317 1 hCV7577317
rs1323472 hCV30830419 rs10985140 0.51 0.765562317 0.9672 hCV7577317
rs1323472 hCV30830474 rs10739590 0.51 0.765562317 0.7677 hCV7577317
rs1323472 hCV7577331 rs1468673 0.51 0.765562317 1 hCV7577337
rs993247 hCV11720383 rs1951784 0.51 0.888308233 0.9293 hCV7577337
rs993247 hCV11720402 rs17611 0.51 0.888308233 1 hCV7577337 rs993247
hCV15751718 rs2296078 0.51 0.888308233 0.8957 hCV7577337 rs993247
hCV15755658 rs2300934 0.51 0.888308233 0.9646 hCV7577337 rs993247
hCV16234785 rs2416811 0.51 0.888308233 1 hCV7577337 rs993247
hCV1632190 rs10760146 0.51 0.888308233 0.9293 hCV7577337 rs993247
hCV2359571 rs25681 0.51 0.888308233 1 hCV7577337 rs993247
hCV25968825 rs10818504 0.51 0.888308233 0.9293 hCV7577337 rs993247
hCV26144282 rs10818499 0.51 0.888308233 1 hCV7577337 rs993247
hCV26144291 rs4570235 0.51 0.888308233 1 hCV7577337 rs993247
hCV26144296 rs10760143 0.51 0.888308233 0.9279 hCV7577337 rs993247
hCV27476319 rs3747843 0.51 0.888308233 0.8957 hCV7577337 rs993247
hCV2783711 rs10733650 0.51 0.888308233 1 hCV7577337 rs993247
hCV29005933 rs7042135 0.51 0.888308233 0.9646 hCV7577337 rs993247
hCV29005936 rs6478498 0.51 0.888308233 0.9646 hCV7577337 rs993247
hCV29734592 rs10435889 0.51 0.888308233 1 hCV7577337 rs993247
hCV29824827 rs9657673 0.51 0.888308233 0.9251 hCV7577337 rs993247
hCV30041036 rs10156476 0.51 0.888308233 0.9286 hCV7577337 rs993247
hCV30167357 rs7022941 0.51 0.888308233 0.9642 hCV7577337 rs993247
hCV3045797 rs7036541 0.51 0.888308233 0.9272 hCV7577337 rs993247
hCV3045800 rs3736855 0.51 0.888308233 0.9293 hCV7577337 rs993247
hCV30830340 rs10760134 0.51 0.888308233 0.8956 hCV7577337 rs993247
hCV30830341 rs7040033 0.51 0.888308233 0.8956 hCV7577337 rs993247
hCV30830415 rs7855998 0.51 0.888308233 0.9646 hCV7577337 rs993247
hCV30830427 rs10760142 0.51 0.888308233 0.9646 hCV7577337 rs993247
hCV30830440 rs10760144 0.51 0.888308233 0.9293 hCV7577337 rs993247
hCV30830506 rs10760151 0.51 0.888308233 0.9293 hCV7577337 rs993247
hCV30830537 rs10818515 0.51 0.888308233 0.8946 hCV7577337 rs993247
hCV30830539 rs10760153 0.51 0.888308233 0.9287 hCV7577337 rs993247
hCV30830540 rs10760154 0.51 0.888308233 0.8956 hCV7577337 rs993247
hCV30830541 rs10760155 0.51 0.888308233 0.8957 hCV7577337 rs993247
hCV30830542 rs10760156 0.51 0.888308233 0.8894 hCV7577337 rs993247
hCV7577235 rs1052508 0.51 0.888308233 0.8957 hCV7577337 rs993247
hCV7577249 rs1359085 0.51 0.888308233 0.8957 hCV7577344 rs876445
hCV11266229 rs10435844 0.51 0.411716825 1 hCV7577344 rs876445
hCV11266268 rs10760121 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV11720350 rs2057469 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV11720413 rs1930782 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV11720414 rs1930781 0.51 0.411716825 1 hCV7577344 rs876445
hCV15849105 rs2900185 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV15849116 rs2900180 0.51 0.411716825 1 hCV7577344 rs876445
hCV15870898 rs2072438 0.51 0.411716825 0.6467 hCV7577344 rs876445
hCV16124825 rs2109895 0.51 0.411716825 1 hCV7577344 rs876445
hCV16175379 rs2239657 0.51 0.411716825 0.9664 hCV7577344 rs876445
hCV16234795 rs2416804 0.51 0.411716825 0.6341 hCV7577344 rs876445
hCV16234838 rs2416819 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV16234840 rs2416817 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV1632195 rs1998505 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV1761888 rs1953126 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV1761891 rs1930778 0.51 0.411716825 0.9602 hCV7577344 rs876445
hCV1761894 rs1609810 0.51 0.411716825 0.9609 hCV7577344 rs876445
hCV2359565 rs1014530 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV25613469 rs10760157 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV25751916 rs10985070 0.51 0.411716825 0.6467 hCV7577344 rs876445
hCV25771057 rs10760150 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV2783582 rs10818482 0.51 0.411716825 0.6467 hCV7577344 rs876445
hCV2783586 rs2270231 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV2783589 rs881375 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV2783590 rs6478486 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV2783591 rs1468671 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783593 rs1548783 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783597 rs1860824 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783599 rs7046108 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783604 rs10760126 0.51 0.411716825 0.6875 hCV7577344 rs876445
hCV2783607 rs9886724 0.51 0.411716825 0.6785 hCV7577344 rs876445
hCV2783608 rs4836834 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783609 rs2241003 0.51 0.411716825 0.9321 hCV7577344 rs876445
hCV2783611 rs10435843 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783618 rs2239658 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783620 rs7021880 0.51 0.411716825 0.9301 hCV7577344 rs876445
hCV2783621 rs2416805 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783622 rs758959 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783625 rs10118357 0.51 0.411716825 0.6645 hCV7577344 rs876445
hCV2783630 rs2269060 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783633 rs7021049 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783634 rs1014529 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783635 rs1930780 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783638 rs3761846 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783640 rs3761847 0.51 0.411716825 0.6341 hCV7577344 rs876445
hCV2783641 rs2416806 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783647 rs10739580 0.51 0.411716825 1 hCV7577344 rs876445
hCV2783650 rs10760129 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783653 rs10760130 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783655 rs10818488 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV2783656 rs4837804 0.51 0.411716825 0.8956 hCV7577344 rs876445
hCV2783659 rs7039505 0.51 0.411716825 1 hCV7577344 rs876445
hCV27912350 rs4837808 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV27912351 rs4837809 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV29005923 rs6478494 0.51 0.411716825 0.4238 hCV7577344 rs876445
hCV29005924 rs7031128 0.51 0.411716825 0.4264 hCV7577344 rs876445
hCV29005976 rs7037195 0.51 0.411716825 0.6687 hCV7577344 rs876445
hCV29005978 rs7021206 0.51 0.411716825 1 hCV7577344 rs876445
hCV29006006 rs7034390 0.51 0.411716825 0.9666 hCV7577344 rs876445
hCV30059070 rs10156413 0.51 0.411716825 0.5258 hCV7577344 rs876445
hCV3045792 rs6478499 0.51 0.411716825 0.4879 hCV7577344 rs876445
hCV3045801 rs2057465 0.51 0.411716825 0.4332 hCV7577344 rs876445
hCV30563729 rs9299273 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV30830414 rs7871371 0.51 0.411716825 0.417 hCV7577344 rs876445
hCV30830468 rs10818507 0.51 0.411716825 0.4539 hCV7577344 rs876445
hCV30830473 rs7036649 0.51 0.411716825 0.4705 hCV7577344 rs876445
hCV30830475 rs10733652 0.51 0.411716825 0.4269 hCV7577344 rs876445
hCV30830484 rs10818508 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV30830486 rs10760149 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV30830503 rs4837811 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV30830512 rs10818512 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV30830521 rs10818513 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV30830536 rs7047038 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV30830638 rs10985073 0.51 0.411716825 0.6467 hCV7577344 rs876445
hCV30830725 rs7864019 0.51 0.411716825 1 hCV7577344 rs876445
hCV30830832 rs10733648 0.51 0.411716825 1 hCV7577344 rs876445
hCV30830909 rs11794516 0.51 0.411716825 0.6467 hCV7577344 rs876445
hCV7577250 rs942153 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV7577271 rs1535655 0.51 0.411716825 0.4465 hCV7577344 rs876445
hCV7577287 rs1323478 0.51 0.411716825 0.4708 hCV7577344 rs876445
hCV7577296 rs1407910 0.51 0.411716825 0.4708 hCV8780517 rs1056567
hCV1452630 rs10818476 0.51 0.48547946 0.4886 hCV8780517 rs1056567
hCV1452665 rs4837796 0.51 0.48547946 0.4886 hCV8780517 rs1056567
hCV1761881 rs3933326 0.51 0.48547946 0.9646 hCV8780517 rs1056567
hCV22272588 rs10760117 0.51 0.48547946 0.4886 hCV8780517 rs1056567
hCV25612709 rs7026635 0.51 0.48547946 0.7608 hCV8780517 rs1056567
hCV25757804 rs4836833 0.51 0.48547946 1 hCV8780517 rs1056567
hCV8780961 rs914842 0.51 0.48547946 0.5969 hCV8780517 rs1056567
hCV8780962 rs1837 0.51 0.48547946 0.7943 hCV8780962 rs1837
hCV1452630 rs10818476 0.51 0.414165706 0.4622 hCV8780962 rs1837
hCV1452651 rs3793638 0.51 0.414165706 0.4281 hCV8780962 rs1837
hCV1452652 rs1060817 0.51 0.414165706 0.4281 hCV8780962 rs1837
hCV1452665 rs4837796 0.51 0.414165706 0.4622 hCV8780962 rs1837
hCV1761881 rs3933326 0.51 0.414165706 0.7653 hCV8780962 rs1837
hCV22272588 rs10760117 0.51 0.414165706 0.4622 hCV8780962 rs1837
hCV25612709 rs7026635 0.51 0.414165706 0.8902 hCV8780962 rs1837
hCV25757804 rs4836833 0.51 0.414165706 0.7943 hCV8780962 rs1837
hCV26144018 rs10739575 0.51 0.414165706 0.5329 hCV8780962 rs1837
hCV2783659 rs7039505 0.51 0.414165706 0.4242 hCV8780962 rs1837
hCV30829523 rs12343516 0.51 0.414165706 0.4281 hCV8780962 rs1837
hCV8780517 rs1056567 0.51 0.414165706 0.7943 hCV8780962 rs1837
hCV8780961 rs914842 0.51 0.414165706 0.6923
TABLE-US-00004 TABLE 5 Minor allele frequencies and allele-based
association of chr 9q33 SNPs with RA (SAMPLE SET 1 - 475 Cases/475
Controls) Control Position & Case Genotypes Genotypes Marker
Gene Type Alleles.sup.a 11 12 22 MAF.sup.b HW.sup.c 11 12 22
rs10984984 MEGF9 intronic T122503297C 4 73 394 0.086 0.766 3 62 405
rs10760112 MEGF9 intronic C122507391T 62 187 223 0.329 0.028 43 163
261 rs10985014 G122538111A 13 117 341 0.152 0.472 12 93 364
rs7026635 FBXW2 intronic G122589848A 40 185 247 0.281 0.568 31 154
285 rs1577001 LOC40237 intronic T122597128C 0 15 457 0.016 1 0 18
452 rs7873274 LOC40237 intronic C122599313T 7 79 384 0.099 0.198 7
76 387 rs10985044 A122603331G 15 119 338 0.158 0.296 13 97 360
rs10760117 PSMD5 intronic T122626558G 99 208 157 0.438 0.059 66 198
199 rs10739575 G122645922A 18 122 332 0.167 0.135 13 107 348
rs933003 A122647650G 0 21 451 0.022 1 1 10 458 rs10985051
C122647701A 15 120 336 0.159 0.301 14 97 358 rs13291973 T122654694G
5 64 403 0.078 0.192 4 55 410 rs1837 PHF19 3'UTR T122658050C 41 194
237 0.292 0.911 32 152 286 rs1056567 PHF19 S181S T122671866C 55 205
212 0.334 0.606 38 182 250 rs10985070 PHF19 intronic C122675942A 99
234 137 0.460 1 69 222 178 rs1953126 T122680321C 61 221 184 0.368
0.765 45 197 223 rs1930777 A122680989G 4 72 396 0.085 0.763 3 62
404 rs1609810 G122682172A 61 222 184 0.368 0.691 43 194 224
rs10985073 T122683676C 101 230 140 0.459 0.711 70 220 178 rs7034390
A122686309T 62 227 183 0.372 0.555 45 198 227 rs10818482
A122687906G 96 235 139 0.454 0.926 66 220 181 rs2270231 C122690803G
62 227 182 0.373 0.555 47 197 226 rs2072438 T122691122C 101 233 138
0.461 0.926 69 223 176 rs881375 T122692719C 62 228 182 0.373 0.555
47 198 223 rs6478486 T122695150C 63 226 182 0.374 0.623 45 197 227
rs1860824 G122699160T 62 226 184 0.371 0.622 45 197 228 rs10760126
T122702439C 101 230 140 0.459 0.711 68 222 180 rs4836834 TRAF1
3'UTR T122705722A 101 231 140 0.459 0.781 68 222 180 rs10435844
TRAF1 intronic G122708020T 62 226 183 0.372 0.622 45 197 228
rs2239657 TRAF1 P340P G122711341A 62 224 184 0.370 0.693 45 195 229
rs12377786 TRAF1 intronic G122711580T 0 4 468 0.004 1 0 3 467
rs2239658 TRAF1 intronic T122711658C 62 225 184 0.370 0.623 45 195
228 rs7021880 TRAF1 intronic C122713711G 51 225 195 0.347 0.265 34
187 249 rs3747841 TRAF1 S170S A122715622G 0 15 455 0.016 1 0 6 464
rs2416804 TRAF1 intronic G122716217C 101 229 142 0.457 0.643 67 221
181 rs2416805 TRAF1 intronic T122716303C 62 227 183 0.372 0.555 46
195 229 rs876445 TRAF1 intronic A122716923T 62 226 183 0.372 0.622
45 197 228 rs10118357 TRAF1 intronic G122719889A 103 228 140 0.461
0.579 68 222 180 rs2269059 TRAF1 intronic A122722293T 3 74 395
0.085 1 4 61 405 rs2191959 TRAF1 intronic A122723655T 3 74 395
0.085 1 3 62 405 rs7021049 TRAF1 intronic G122723803T 103 229 140
0.461 0.643 68 222 180 rs7021206 TRAF1 intronic G122723978A 62 223
184 0.370 0.693 45 194 228 rs1014529 TRAF1 intronic C122724764G 62
226 183 0.372 0.622 45 197 228 rs1930781 TRAF1 intronic G122727655A
63 225 183 0.373 0.694 45 197 227 rs1930782 TRAF1 intronic
C122727726T 97 234 140 0.454 1 66 219 183 rs3761846 C122729418T 98
234 140 0.456 1 68 219 183 rs2416806 G122730113C 62 224 185 0.369
0.693 45 196 228 rs7864019 A122732689T 61 228 182 0.372 0.490 46
196 228 rs10760130 G122741811A 98 230 141 0.454 0.852 68 223 177
rs10818488 A122744908G 97 233 140 0.454 1 68 220 181 rs2900180
T122746203C 59 222 185 0.365 0.617 45 194 223 rs10760131
G122749962T 0 20 446 0.021 1 0 9 451 rs12004487 C5 intronic
C122756502T 5 74 386 0.090 0.407 3 67 398 rs16910233 C5 intronic
G122763432C 0 4 468 0.004 1 0 3 465 rs2269066 C5 intronic
T122776839C 5 86 381 0.102 1 1 67 401 rs2269067 C5 intronic
C122776861G 23 150 299 0.208 0.484 13 138 317 rs2159776 C5 intronic
C122795981T 98 242 131 0.465 0.517 87 221 160 rs10760134 C5
intronic C122798246T 80 244 146 0.430 0.222 106 233 131 rs7040033
C5 intronic A122798865G 83 243 146 0.433 0.348 107 232 131
rs10760135 C5 intronic T122802827C 102 233 132 0.468 1 87 219 157
rs17611 C5 I802V A122809021G 80 238 149 0.426 0.395 106 230 129
rs10818496 C5 intronic G122814284A 71 225 176 0.389 1 69 205 196
rs10985126 C5 G385G C122823755T 14 149 309 0.188 0.545 12 134 323
rs993247 C5 intronic G122825070A 77 245 149 0.424 0.186 106 231 132
rs2416811 C5 intronic T122829455C 76 247 146 0.425 0.108 108 230
132 rs10156396 C5 intronic T122830953C 23 182 265 0.243 0.314 24
150 295 rs10985132 C5 intronic T122835515C 23 183 266 0.243 0.261
24 150 295 rs10818499 C5 intronic A122839915T 77 247 148 0.425
0.133 106 230 134 rs9644911 C5 intronic G122848925A 23 185 264
0.245 0.214 24 150 295 rs10739585 C5 intronic G122849360C 23 185
263 0.245 0.214 24 150 295 rs7871371 T122855883C 23 183 265 0.243
0.261 25 149 295 rs7855998 T122855917C 77 249 146 0.427 0.110 105
231 134 rs7029523 T122857434C 22 183 264 0.242 0.208 24 150 295
rs1924081 A122862268T 23 182 266 0.242 0.314 24 150 296 rs1323472
C122866156G 79 247 146 0.429 0.159 72 211 186 rs7042135 T122876474C
77 244 150 0.423 0.219 105 230 133 rs6478498 A122877723G 78 247 147
0.427 0.158 105 231 134 rs7856420 G122878978C 39 219 212 0.316
0.109 39 192 237 rs10739586 T122881893A 40 217 215 0.315 0.166 39
189 242 rs6478499 A122882694G 35 213 223 0.300 0.124 38 182 250
rs4837808 A122886441G 35 214 222 0.301 0.101 38 182 250 rs12685539
CEP110 intronic G122896746T 0 8 464 0.008 1 1 5 464 rs10760146
CEP110 intronic T122896906C 73 248 151 0.417 0.089 105 228 137
rs9299273 CEP110 intronic T122898251A 35 216 217 0.306 0.065 38 187
245 rs9657673 CEP110 intronic T122900196C 72 247 152 0.415 0.089
106 227 137 rs7022941 CEP110 intronic G122907291C 73 248 151 0.417
0.089 105 226 138 rs1998506 CEP110 intronic G122910284A 40 219 213
0.317 0.137 39 193 238 rs4837809 CEP110 intronic T122913032G 36 217
219 0.306 0.083 38 187 244 rs1407910 CEP110 intronic T122915251C 36
216 219 0.306 0.103 38 185 246 rs2146838 CEP110 intronic
G122916126A 83 246 143 0.436 0.224 77 220 173 rs1951784 CEP110
intronic G122916272A 74 246 152 0.417 0.131 104 229 136 rs10818508
CEP110 intronic G122922855A 35 215 220 0.303 0.081 39 186 245
rs10081760 CEP110 intronic A122924127G 40 219 212 0.317 0.136 37
194 239 rs2900185 CEP110 intronic A122927191G 36 215 218 0.306
0.103 37 187 246 rs4837811 CEP110 intronic T122941415G 36 216 219
0.306 0.103 38 187 244 rs2068055 CEP110 intronic T122943988A 10 114
346 0.143 0.850 12 103 354 rs10760151 CEP110 intronic G122945183A
78 244 150 0.424 0.221 108 228 133 rs7036541 CEP110 intronic
G122945456C 80 243 149 0.427 0.301 108 229 133 rs12683062 CEP110
intronic T122946625G 6 100 366 0.119 1 7 93 369 rs3747843 CEP110
intronic A122954127G 120 246 104 0.517 0.311 106 236 127 rs3736855
CEP110 V1398V A122956841T 80 242 150 0.426 0.346 106 230 134
rs10818512 CEP110 intronic A122957176G 37 214 221 0.305 0.158 38
183 249 rs3736856 CEP110 intronic G122960384A 94 232 142 0.449 1 85
216 167 rs2057466 CEP110 intronic T122966751C 40 219 211 0.318
0.136 39 193 238 rs1535655 CEP110 intronic G122968390A 35 215 220
0.303 0.081 38 186 245 rs2146836 CEP110 intronic A122970117C 40 218
212 0.317 0.137 37 193 240 rs2302498 CEP110 intronic A122976150T 79
241 151 0.424 0.345 77 216 177 rs7047038 RAB14 intronic T122986768G
35 215 221 0.303 0.082 38 182 242 rs10760152 RAB14 intronic
A122987806C 37 213 221 0.305 0.158 38 188 244 rs10760153 RAB14
intronic C122988196T 79 243 148 0.427 0.258 107 229 131 rs942152
RAB14 intronic C122991506T 89 242 140 0.446 0.403 87 221 161
rs9408928 RAB14 intronic C122991738T 2 49 421 0.056 0.651 5 36 429
rs9409230 T123007581A 1 49 417 0.055 1 4 34 426 rs7030849
C123009655T 82 246 144 0.434 0.223 78 216 174 rs747846 T123022431G
51 183 238 0.302 0.081 50 176 243 rs12343027 T123027074C 3 48 421
0.057 0.188 1 49 420 rs4837817 C123034984G 11 106 354 0.136 0.331
13 110 347 rs4595204 T123056182A 0 33 439 0.035 1 2 31 436
rs10985196 GSN intronic A123072865C 20 176 275 0.229 0.242 18 145
306 rs306781 GSN intronic C123082765T 0 9 463 0.010 1 1 21 448
rs11787991 GSN intronic T123086454G 1 28 443 0.032 0.379 0 37 431
rs7046030 GSN intronic C123087058T 19 165 283 0.217 0.496 17 135
312 rs12683459 GSN intronic A123088119G 19 170 283 0.220 0.349 17
140 313 rs11788156 GSN intronic C123111661G 0 39 433 0.041 1 2 33
435 rs4837839 GSN intronic T123111948C 94 223 154 0.436 0.453 122
224 123 rs306783 GSN intronic T123112418C 100 235 136 0.462 1 81
236 151 rs306784 GSN intronic T123112473G 69 236 165 0.398 0.336 58
219 191 rs10818527 GSN intronic A123115075G 60 225 186 0.366 0.553
42 205 222 rs16910509 GSN intronic T123123292C 13 98 361 0.131
0.066 16 79 375 rs2304393 GSN G471G T123123435C 1 39 427 0.044
0.601 1 42 421 rs12683989 GSN intronic T123125867C 1 50 421 0.055 1
0 47 423 rs1560980 GSN intronic C123133818G 1 31 439 0.035 0.440 1
31 435 rs7039494 GSN intronic T123134411A 12 136 324 0.169 0.744 18
108 341 rs12340264 STOM intronic T123149742C 6 72 394 0.089 0.246 6
77 386 rs12554081 STOM intronic A123165145C 13 117 342 0.151 0.472
19 89 362 rs17086 STOM intronic G123165341A 68 203 200 0.360 0.162
69 190 210 rs10818531 STOM intronic T123168845C 1 39 432 0.043
0.597 1 42 425 rs367395 STOM intronic T123171333G 9 106 357 0.131
0.688 13 82 375 Genotypic Marker MAF HW.sup.c OR (95% CI) P.sup.d
P.sup.e rs10984984 0.072 0.725 1.21 (0.86-1.69) 0.2768 0.563
rs10760112 0.267 0.024 1.35 (1.11-1.65) 0.0047 0.018 rs10985014
0.125 0.055 1.26 (0.97-1.63) 0.0991 0.174 rs7026635 0.230 0.117
1.31 (1.06-1.61) 0.0135 0.036 rs1577001 0.019 1 0.83 (0.41-1.65)
0.5864 0.589 rs7873274 0.096 0.175 1.04 (0.76-1.41) 0.8203 0.966
rs10985044 0.131 0.064 1.24 (0.96-1.61) 0.1075 0.218 rs10760117
0.356 0.156 1.40 (1.17-1.69) 6.11E-04 0.003 rs10739575 0.142 0.183
1.21 (0.94-1.56) 0.1428 0.344 rs933003 0.013 0.069 1.76 (0.86-3.59)
0.1263 0.116 rs10985051 0.133 0.028 1.23 (0.95-1.59) 0.1245 0.208
rs13291973 0.067 0.146 1.18 (0.83-1.67) 0.3634 0.664 rs1837 0.230
0.068 1.38 (1.13-1.70) 0.0025 0.005 rs1056567 0.274 0.563 1.32
(1.09-1.61) 0.0059 0.022 rs10985070 0.384 1 1.37 (1.14-1.64)
9.07E-04 0.004 rs1953126 0.309 0.913 1.30 (1.08-1.58) 0.0067 0.023
rs1930777 0.072 0.725 1.18 (0.85-1.66) 0.3277 0.629 rs1609810 0.304
0.912 1.34 (1.10-1.62) 0.0031 0.012 rs10985073 0.385 0.922 1.36
(1.13-1.63) 0.0013 0.006 rs7034390 0.306 0.829 1.34 (1.11-1.62)
0.0026 0.009 rs10818482 0.377 1 1.38 (1.14-1.65) 6.79E-04 0.003
rs2270231 0.310 0.667 1.32 (1.09-1.60) 0.0039 0.012 rs2072438 0.386
1 1.36 (1.13-1.64) 0.0010 0.004 rs881375 0.312 0.747 1.31
(1.08-1.59) 0.0052 0.016 rs6478486 0.306 0.828 1.35 (1.12-1.64)
0.0019 0.007 rs1860824 0.305 0.828 1.34 (1.11-1.62) 0.0026 0.009
rs10760126 0.381 1 1.38 (1.15-1.65) 6.90E-04 0.003 rs4836834 0.381
1 1.38 (1.15-1.66) 6.72E-04 0.003 rs10435844 0.305 0.828 1.35
(1.11-1.63) 0.0024 0.008 rs2239657 0.304 0.743 1.35 (1.11-1.63)
0.0024 0.008 rs12377786 0.003 1 1.33 (0.30-5.95) 0.7085 0.718
rs2239658 0.304 0.743 1.34 (1.11-1.63) 0.0025 0.009 rs7021880 0.271
1 1.43 (1.17-1.74) 3.12E-04 0.001 rs3747841 0.006 1 2.52
(0.98-6.53) 0.0470 0.046 rs2416804 0.378 1 1.38 (1.15-1.66)
6.58E-04 0.003 rs2416805 0.305 0.664 1.35 (1.11-1.63) 0.0023 0.007
rs876445 0.305 0.828 1.35 (1.11-1.63) 0.0024 0.008 rs10118357 0.381
1 1.39 (1.16-1.67) 5.08E-04 0.002 rs2269059 0.073 0.300 1.17
(0.84-1.63) 0.3656 0.481 rs2191959 0.072 0.725 1.19 (0.85-1.66)
0.3176 0.568 rs7021049 0.381 1 1.39 (1.16-1.67) 4.95E-04 0.002
rs7021206 0.304 0.664 1.34 (1.11-1.63) 0.0026 0.009 rs1014529 0.305
0.828 1.35 (1.11-1.63) 0.0024 0.008 rs1930781 0.306 0.828 1.35
(1.11-1.63) 0.0023 0.008 rs1930782 0.375 1 1.39 (1.15-1.67)
5.03E-04 0.002 rs3761846 0.378 0.845 1.38 (1.15-1.66) 6.53E-04
0.003 rs2416806 0.305 0.745 1.34 (1.10-1.62) 0.0031 0.011 rs7864019
0.306 0.665 1.34 (1.11-1.62) 0.0028 0.008 rs10760130 0.384 0.922
1.34 (1.11-1.61) 0.0020 0.008 rs10818488 0.380 0.922 1.36
(1.13-1.64) 0.0011 0.005 rs2900180 0.307 0.744 1.29 (1.07-1.57)
0.0087 0.026 rs10760131 0.010 1 2.22 (1.01-4.90) 0.0414 0.041
rs12004487 0.078 0.753 1.17 (0.85-1.63) 0.3420 0.608 rs16910233
0.003 1 1.32 (0.30-5.93) 0.7127 0.722 rs2269066 0.074 0.498 1.43
(1.03-1.97) 0.0296 0.063 rs2269067 0.175 0.751 1.23 (0.98-1.55)
0.0756 0.150 rs2159776 0.422 0.507 1.19 (0.99-1.43) 0.0611 0.106
rs10760134 0.473 0.926 0.84 (0.70-1.01) 0.0544 0.095 rs7040033
0.474 0.853 0.85 (0.71-1.02) 0.0700 0.129 rs10760135 0.424 0.506
1.19 (0.99-1.43) 0.0614 0.152 rs17611 0.475 0.853 0.82 (0.68-0.98)
0.0318 0.074 rs10818496 0.365 0.197 1.11 (0.92-1.33) 0.2916 0.363
rs10985126 0.168 0.744 1.14 (0.90-1.44) 0.2731 0.539 rs993247 0.472
0.782 0.82 (0.68-0.98) 0.0316 0.049 rs2416811 0.474 0.711 0.82
(0.68-0.98) 0.0302 0.032 rs10156396 0.211 0.405 1.20 (0.96-1.49)
0.1021 0.096 rs10985132 0.211 0.405 1.20 (0.96-1.49) 0.1013 0.093
rs10818499 0.470 0.711 0.83 (0.69-1.00) 0.0448 0.052 rs9644911
0.211 0.405 1.21 (0.98-1.50) 0.0804 0.069 rs10739585 0.211 0.405
1.21 (0.98-1.51) 0.0761 0.064 rs7871371 0.212 0.271 1.19
(0.96-1.48) 0.1088 0.076 rs7855998 0.469 0.781 0.84 (0.70-1.01)
0.0612 0.064 rs7029523 0.211 0.405 1.19 (0.96-1.48) 0.1074 0.080
rs1924081 0.211 0.405 1.20 (0.96-1.49) 0.1023 0.096 rs1323472 0.378
0.377 1.23 (1.03-1.48) 0.0246 0.019 rs7042135 0.470 0.781 0.82
(0.69-0.99) 0.0360 0.057 rs6478498 0.469 0.781 0.84 (0.70-1.01)
0.0618 0.077 rs7856420 0.288 1 1.14 (0.94-1.39) 0.1860 0.207
rs10739586 0.284 0.821 1.16 (0.95-1.41) 0.1418 0.172 rs6478499
0.274 0.563 1.14 (0.93-1.39) 0.2078 0.130 rs4837808 0.274 0.563
1.14 (0.93-1.39) 0.1897 0.113 rs12685539 0.007 0.022 1.14
(0.41-3.15) 0.8127 0.441 rs10760146 0.466 0.579 0.82 (0.68-0.99)
0.0316 0.026 rs9299273 0.280 0.819 1.13 (0.93-1.38) 0.2112 0.143
rs9657673 0.467 0.517 0.81 (0.67-0.97) 0.0218 0.017 rs7022941 0.465
0.516 0.82 (0.69-0.99) 0.0361 0.025 rs1998506 0.288 1 1.14
(0.94-1.39) 0.1711 0.220 rs4837809 0.280 0.819 1.13 (0.93-1.38)
0.2114 0.165 rs1407910 0.278 0.730 1.14 (0.94-1.39) 0.1830 0.135
rs2146838 0.398 0.631 1.17 (0.98-1.41) 0.0868 0.105 rs1951784 0.466
0.711 0.82 (0.68-0.99) 0.0320 0.038 rs10818508 0.281 0.649 1.11
(0.91-1.36) 0.2790 0.162 rs10081760 0.285 0.822 1.17 (0.96-1.42)
0.1186 0.198 rs2900185 0.278 0.908 1.15 (0.94-1.40) 0.1694 0.162
rs4837811 0.280 0.819 1.13 (0.93-1.38) 0.2191 0.176 rs2068055 0.135
0.170 1.06 (0.82-1.38) 0.6592 0.664 rs10760151 0.473 0.580 0.82
(0.68-0.98) 0.0293 0.041 rs7036541 0.473 0.644 0.83 (0.69-0.99)
0.0413 0.064
rs12683062 0.114 0.648 1.05 (0.79-1.39) 0.7573 0.849 rs3747843
0.478 0.926 1.17 (0.98-1.40) 0.0834 0.186 rs3736855 0.470 0.711
0.84 (0.70-1.00) 0.0513 0.089 rs10818512 0.276 0.566 1.15
(0.95-1.41) 0.1529 0.130 rs3736856 0.412 0.296 1.16 (0.97-1.39)
0.1168 0.219 rs2057466 0.288 1 1.15 (0.95-1.40) 0.1522 0.195
rs1535655 0.279 0.732 1.12 (0.92-1.37) 0.2466 0.169 rs2146836 0.284
0.910 1.17 (0.96-1.43) 0.1115 0.186 rs2302498 0.394 0.440 1.13
(0.94-1.36) 0.1852 0.178 rs7047038 0.279 0.645 1.12 (0.92-1.37)
0.2598 0.156 rs10760152 0.281 0.820 1.12 (0.92-1.37) 0.2492 0.259
rs10760153 0.474 0.711 0.82 (0.69-0.99) 0.0363 0.059 rs942152 0.421
0.507 1.11 (0.92-1.33) 0.2782 0.296 rs9408928 0.049 0.003 1.16
(0.77-1.73) 0.5026 0.195 rs9409230 0.045 0.010 1.22 (0.80-1.85)
0.3688 0.105 rs7030849 0.397 0.441 1.16 (0.97-1.40) 0.1027 0.088
rs747846 0.294 0.045 1.04 (0.85-1.26) 0.7274 0.910 rs12343027 0.054
1 1.06 (0.71-1.57) 0.7824 0.610 rs4837817 0.145 0.261 0.93
(0.72-1.21) 0.5914 0.858 rs4595204 0.037 0.129 0.93 (0.58-1.52)
0.7864 0.285 rs10985196 0.193 0.882 1.24 (1.00-1.55) 0.0506 0.094
rs306781 0.024 0.241 0.38 (0.18-0.83) 0.0142 0.074 rs11787991 0.040
1 0.80 (0.49-1.30) 0.3633 0.329 rs7046030 0.182 0.640 1.25
(0.99-1.57) 0.0563 0.106 rs12683459 0.185 0.760 1.24 (0.99-1.56)
0.0550 0.106 rs11788156 0.039 0.155 1.05 (0.66-1.66) 0.8301 0.234
rs4837839 0.499 0.356 0.78 (0.65-0.93) 0.0078 0.029 rs306783 0.425
0.570 1.16 (0.97-1.39) 0.1078 0.251 rs306784 0.358 0.763 1.19
(0.98-1.43) 0.0697 0.176 rs10818527 0.308 0.665 1.30 (1.07-1.57)
0.0070 0.026 rs16910509 0.118 1.61E-04 1.13 (0.86-1.48) 0.4142
0.274 rs2304393 0.047 1 0.92 (0.60-1.43) 0.7163 0.938 rs12683989
0.050 0.620 1.11 (0.74-1.66) 0.6148 0.554 rs1560980 0.035 0.443
1.01 (0.62-1.65) 0.9548 0.999 rs7039494 0.154 0.020 1.12
(0.88-1.43) 0.3775 0.091 rs12340264 0.095 0.289 0.93 (0.68-1.27)
0.6657 0.889 rs12554081 0.135 2.00E-04 1.14 (0.88-1.48) 0.3355
0.065 rs17086 0.350 0.019 1.05 (0.87-1.26) 0.6577 0.713 rs10818531
0.047 1 0.92 (0.60-1.42) 0.7092 0.935 rs367395 0.115 0.005 1.16
(0.88-1.53) 0.2945 0.123 .sup.aPositions according to genomic
conting NT_008470.18 (Entrez Nucleotide). The minor allele is
listed first, followed by the position in National Center for
Biotechnology Information Genome Build 36.2 and then the major
allele. .sup.bMAF is the minor allele frequency.
.sup.cHardy-Weinberg equilibrium testing was accomplished through
the exact test of Weir as described in the Materials and Methods.
.sup.dCalculated using Cochran-Armitage Trend test.
.sup.eCalculated using William's-corrected G test.
TABLE-US-00005 TABLE 6 Minor allele frequencies and allele-based
association of chr 9q33 SNPs with RA (SAMPLE SET 2 - 661 Cases/1322
Controls) Control Position & Case Genotypes Genotypes Marker
Gene Type Alleles.sup.a 11 12 22 MAF.sup.b HW.sup.c 11 12 22
rs10984984 MEGF9 intronic T122503297C rs10760112 MEGF9 intronic
C122507391T 62 289 308 0.313 0.652 105 572 639 rs10985014
G122538111A 10 160 489 0.137 0.513 22 325 969 rs7026635 FBXW2
intronic G122589848A 46 272 341 0.276 0.437 67 505 745 rs1577001
LOC402377 intronic T122597128C 1 29 629 0.024 0.303 0 54 1263
rs7873274 LOC402377 intronic C122599313T 9 136 513 0.117 1 16 239
1058 rs10985044 A122603331G rs10760117 PSMD5 intronic T122626558G
107 342 209 0.422 0.110 195 649 474 rs10739575 G122645922A 14 202
443 0.175 0.135 25 349 942 rs933003 A122647650G 0 32 627 0.024 1 0
56 1260 rs10985051 C122647701A 15 167 477 0.149 0.879 24 347 946
rs13291973 T122654694G 7 97 554 0.084 0.212 9 200 1107 rs1837 PHF19
3'UTR T122658050C 44 285 330 0.283 0.103 72 514 731 rs1056567 PHF19
S181S T122671866C 65 320 274 0.341 0.046 104 571 641 rs10985070
PHF19 intronic C122675942A rs1953126 T122680321C 87 319 250 0.376
0.405 125 561 632 rs1930777 A122680989G rs1609810 G122682172A 87
325 245 0.380 0.215 125 558 633 rs10985073 T122683676C rs7034390
A122686309T rs10818482 A122687906G rs2270231 C122690803G rs2072438
T122691122C rs881375 T122692719C 88 325 245 0.381 0.247 125 561 629
rs6478486 T122695150C 87 325 246 0.379 0.246 124 558 631 rs1860824
G122699160T rs10760126 T122702439C rs4836834 TRAF1 3'UTR
T122705722A 130 345 184 0.459 0.183 205 631 481 rs10435844 TRAF1
intronic G122708020T rs2239657 TRAF1 P340P G122711341A 87 325 247
0.379 0.246 125 557 635 rs12377786 TRAF1 intronic G122711580T
rs2239658 TRAF1 intronic T122711658C rs7021880 TRAF1 intronic
C122713711G 77 306 275 0.350 0.607 100 516 701 rs3747841 TRAF1
S170S A122715622G 0 14 645 0.011 1 0 37 1279 rs2416804 TRAF1
intronic G122716217C rs2416805 TRAF1 intronic T122716303C rs876445
TRAF1 intronic A122716923T rs10118357 TRAF1 intronic G122719889A
rs2269059 TRAF1 intronic A122722293T 4 90 565 0.074 0.776 7 196
1114 rs2191959 TRAF1 intronic A122723655T rs7021049 TRAF1 intronic
G122723803T 133 342 184 0.461 0.273 204 630 483 rs7021206 TRAF1
intronic G122723978A rs1014529 TRAF1 intronic C122724764G rs1930781
TRAF1 intronic G122727655A rs1930782 TRAF1 intronic C122727726T
rs3761846 C122729418T rs2416806 G122730113C rs7864019 A122732689T
rs10760130 G122741811A rs10818488 A122744908G rs2900180 T122746203C
88 325 244 0.381 0.247 126 558 633 rs10760131 G122749962T 0 19 634
0.015 1 1 56 1242 rs12004487 C5 intronic C122756502T 5 95 558 0.080
0.595 8 220 1089 rs16910233 C5 intronic G122763432C 0 5 654 0.004 1
0 21 1295 rs2269066 C5 intronic T122776839C 15 141 503 0.130 0.169
12 209 1096 rs2269067 C5 intronic C122776861G 41 212 405 0.223
0.072 35 379 903 rs2159776 C5 intronic C122795981T 134 333 191
0.457 0.638 261 642 414 rs10760134 C5 intronic C122798246T
rs7040033 C5 intronic A122798865G 128 339 192 0.451 0.346 308 640
368 rs10760135 C5 intronic T122802827C 132 332 194 0.453 0.694 261
637 418 rs17611 C5 I802V A122809021G 129 336 196 0.4493 0.530 305
646 371 rs10818496 C5 intronic G122814284A 87 286 286 0.349 0.265
184 612 521 rs10985126 C5 G385G C122823755T 34 198 425 0.202 0.091
27 362 928 rs993247 C5 intronic G122825070A rs2416811 C5 intronic
T122829455C 128 335 196 0.448 0.529 302 642 373 rs10156396 C5
intronic T122830953C rs10985132 C5 intronic T122835515C rs10818499
C5 intronic A122839915T rs9644911 C5 intronic G122848925A 33 217
409 0.215 0.563 64 446 807 rs10739585 C5 intronic G122849360C
rs7871371 T122855883C rs7855998 T122855917C rs7029523 T122857434C
rs1924081 A122862268T rs1323472 C122866156G 110 326 222 0.415 0.630
190 606 521 rs7042135 T122876474C rs6478498 A122877723G rs7856420
G122878978C rs10739586 T122881893A rs6478499 A122882694G rs4837808
A122886441G rs12685539 CEP110 intronic G122896746T 0 20 639 0.015 1
0 25 1291 rs10760146 CEP110 intronic T122896906C rs9299273 CEP110
intronic T122898251A rs9657673 CEP110 intronic T122900196C 124 328
207 0.437 0.812 277 647 393 rs7022941 CEP110 intronic G122907291C
rs1998506 CEP110 intronic G122910284A rs4837809 CEP110 intronic
T122913032G rs1407910 CEP110 intronic T122915251C rs2146838 CEP110
intronic G122916126A rs1951784 CEP110 intronic G122916272A
rs10818508 CEP110 intronic G122922855A rs10081760 CEP110 intronic
A122924127G 56 297 305 0.311 0.202 119 519 676 rs2900185 CEP110
intronic A122927191G rs4837811 CEP110 intronic T122941415G
rs2068055 CEP110 intronic T122943988A 15 146 498 0.134 0.310 24 356
934 rs10760151 CEP110 intronic G122945183A rs7036541 CEP110
intronic G122945456C rs12683062 CEP110 intronic T122946625G 19 111
528 0.113 2.56E-04 11 236 1070 rs3747843 CEP110 intronic
A122954127G 164 337 158 0.505 0.586 321 640 355 rs3736855 CEP110
V1398V A122956841T 129 325 205 0.442 1 256 611 370 rs10818512
CEP110 intronic A122957176G rs3736856 CEP110 intronic G122960384A
128 318 213 0.436 0.635 236 638 443 rs2057466 CEP110 intronic
T122966751C rs1535655 CEP110 intronic G122968390A rs2146836 CEP110
intronic A122970117C rs2302498 CEP110 intronic A122976150T
rs7047038 RAB14 intronic T122986768G rs10760152 RAB14 intronic
A122987806C 55 293 311 0.306 0.271 110 506 701 rs10760153 RAB14
intronic C122988196T rs942152 RAB14 intronic C122991506T 133 322
204 0.446 0.813 204 626 485 rs9408928 RAB14 intronic C122991738T 5
70 583 0.061 0.084 7 112 1198 rs9409230 T123007581A 3 65 589 0.054
0.427 8 101 1207 rs7030849 C123009655T 117 326 215 0.426 0.750 186
588 462 rs747846 T123022431G 70 259 330 0.303 0.080 180 575 562
rs12343027 T123027074C 2 50 606 0.041 0.298 3 113 1201 rs4837817
C123034984G 14 160 485 0.143 0.873 35 347 935 rs4595204 T123056182A
1 58 599 0.046 1 0 120 1197 rs10985196 GSN intronic A123072865C 46
217 396 0.234 0.039 35 363 919 rs306781 GSN intronic C123082765T 0
31 628 0.024 1 0 65 1252 rs11787991 GSN intronic T123086454G 2 41
616 0.034 0.171 1 76 1239 rs7046030 GSN intronic C123087058T 40 209
408 0.220 0.068 34 342 942 rs12683459 GSN intronic A123088119G 40
211 407 0.221 0.089 32 344 939 rs11788156 GSN intronic C123111661G
2 57 600 0.046 0.644 2 100 1214 rs4837839 GSN intronic T123111948C
136 303 220 0.436 0.096 263 641 412 rs306783 GSN intronic
T123112418C 142 294 223 0.439 0.018 249 612 455 rs306784 GSN
intronic T123112473G 104 292 262 0.380 0.137 178 595 544 rs10818527
GSN intronic A123115075G 94 283 282 0.357 0.107 126 581 610
rs16910509 GSN intronic T123123292C 14 128 516 0.119 0.090 25 350
942 rs2304393 GSN G471G T123123435C 0 48 611 0.036 1 1 120 1195
rs12683989 GSN intronic T123125867C 2 94 563 0.074 0.568 5 116 1196
rs1560980 GSN intronic C123133818G 3 47 609 0.040 0.081 3 103 1210
rs7039494 GSN intronic T123134411A 15 164 480 0.147 0.758 44 410
863 rs12340264 STOM intronic T123149742C 8 108 543 0.094 0.355 17
235 1064 rs12554081 STOM intronic A123165145C 18 150 491 0.141
0.145 34 381 902 rs17086 STOM intronic G123165341A rs10818531 STOM
intronic T123168845C 1 48 609 0.038 1 1 122 1194 rs367395 STOM
intronic T123171333G 11 131 517 0.116 0.445 25 340 949 Genotypic
Marker MAF HW.sup.c OR (95% CI) P.sup.d P.sup.e rs10984984
rs10760112 0.297 0.147 1.08 (0.94-1.25) 0.2866 0.507 rs10985014
0.140 0.424 0.97 (0.80-1.18) 0.7527 0.944 rs7026635 0.243 0.133
1.19 (1.03-1.38) 0.0197 0.065 rs1577001 0.021 1 1.15 (0.74-1.80)
0.5377 0.412 rs7873274 0.103 0.550 1.15 (0.93-1.42) 0.1894 0.404
rs10985044 rs10760117 0.394 0.273 1.12 (0.98-1.29) 0.0805 0.171
rs10739575 0.152 0.285 1.18 (0.99-1.41) 0.0580 0.141 rs933003 0.021
1 1.14 (0.74-1.78) 0.5419 0.546 rs10985051 0.150 0.279 1.00
(0.83-1.20) 0.9521 0.729 rs13291973 0.083 1 1.02 (0.80-1.30) 0.8704
0.672 rs1837 0.250 0.142 1.19 (1.02-1.38) 0.0216 0.067 rs1056567
0.296 0.146 1.23 (1.07-1.42) 0.0028 0.009 rs10985070 rs1953126
0.308 1 1.35 (1.18-1.56) 1.69E-05 7.83E-05 rs1930777 rs1609810
0.307 0.897 1.38 (1.20-1.59) 4.21E-06 1.55E-05 rs10985073 rs7034390
rs10818482 rs2270231 rs2072438 rs881375 0.308 1 1.38 (1.20-1.58)
4.78E-06 1.99E-05 rs6478486 0.307 1 1.38 (1.20-1.58) 4.83E-06
1.90E-05 rs1860824 rs10760126 rs4836834 0.395 0.954 1.30
(1.14-1.48) 1.10E-04 3.26E-04 rs10435844 rs2239657 0.306 0.846 1.38
(1.20-1.58) 4.86E-06 1.78E-05 rs12377786 rs2239658 rs7021880 0.272
0.728 1.44 (1.25-1.66) 5.09E-07 3.09E-06 rs3747841 0.014 1 0.75
(0.41-1.40) 0.3640 0.359 rs2416804 rs2416805 rs876445 rs10118357
rs2269059 0.080 0.850 0.93 (0.72-1.19) 0.5511 0.757 rs2191959
rs7021049 0.394 1 1.32 (1.15-1.50) 4.78E-05 1.79E-04 rs7021206
rs1014529 rs1930781 rs1930782 rs3761846 rs2416806 rs7864019
rs10760130 rs10818488 rs2900180 0.308 0.846 1.39 (1.21-1.59)
3.21E-06 1.19E-05 rs10760131 0.022 0.478 0.65 (0.38-1.09) 0.1003
0.286 rs12004487 0.090 0.498 0.88 (0.69-1.12) 0.2981 0.410
rs16910233 0.008 1 0.47 (0.18-1.26) 0.1238 0.111 rs2269066 0.088
0.497 1.54 (1.25-1.89) 7.19E-05 4.63E-04 rs2269067 0.170 0.560 1.40
(1.19-1.65) 7.10E-05 9.41E-05 rs2159776 0.442 0.696 1.06
(0.93-1.21) 0.3790 0.547 rs10760134 rs7040033 0.477 0.377 0.90
(0.79-1.03) 0.1269 0.127 rs10760135 0.440 0.538 1.05 (0.92-1.20)
0.4562 0.570 rs17611 0.475 0.473 0.90 (0.79-1.03) 0.1269 0.190
rs10818496 0.372 0.860 0.90 (0.79-1.04) 0.1597 0.263 rs10985126
0.158 0.255 1.35 (1.14-1.60) 5.15E-04 3.28E-04 rs993247 rs2416811
0.473 0.439 0.91 (0.79-1.03) 0.1444 0.200 rs10156396 rs10985132
rs10818499 rs9644911 0.218 0.809 0.98 (0.84-1.15) 0.8186 0.915
rs10739585 rs7871371 rs7855998 rs7029523 rs1924081 rs1323472 0.374
0.518 1.19 (1.04-1.36) 0.0140 0.036 rs7042135 rs6478498 rs7856420
rs10739586 rs6478499 rs4837808 rs12685539 0.009 1 1.61 (0.89-2.90)
0.1109 0.121 rs10760146 rs9299273 rs9657673 0.456 0.739 0.93
(0.81-1.06) 0.2600 0.480 rs7022941 rs1998506 rs4837809 rs1407910
rs2146838 rs1951784 rs10818508 rs10081760 0.288 0.179 1.11
(0.96-1.29) 0.1413 0.056 rs2900185 rs4837811 rs2068055 0.154 0.167
0.85 (0.70-1.03) 0.0887 0.052 rs10760151
rs7036541 rs12683062 0.098 0.755 1.18 (0.95-1.46) 0.1463 0.003
rs3747843 0.487 0.348 1.07 (0.94-1.22) 0.3029 0.343 rs3736855 0.454
0.909 0.95 (0.83-1.09) 0.4953 0.791 rs10818512 rs3736856 0.421
0.821 1.06 (0.93-1.21) 0.4007 0.682 rs2057466 rs1535655 rs2146836
rs2302498 rs7047038 rs10760152 0.276 0.168 1.16 (1.00-1.34) 0.0490
0.029 rs10760153 rs942152 0.393 0.954 1.24 (1.09-1.42) 0.0015 0.006
rs9408928 0.048 0.026 1.29 (0.97-1.72) 0.0949 0.261 rs9409230 0.044
0.003 1.23 (0.91-1.66) 0.1986 0.245 rs7030849 0.388 1 1.17
(1.02-1.34) 0.0259 0.082 rs747846 0.355 0.092 0.79 (0.68-0.91)
0.0014 0.005 rs12343027 0.045 0.746 0.90 (0.65-1.26) 0.5514 0.734
rs4837817 0.158 0.679 0.88 (0.73-1.07) 0.1993 0.437 rs4595204 0.046
0.108 1.00 (0.73-1.37) 0.9616 0.420 rs10985196 0.164 1 1.56
(1.32-1.83) 1.79E-07 4.93E-07 rs306781 0.025 1 0.95 (0.62-1.47)
0.8211 0.822 rs11787991 0.030 1 1.16 (0.80-1.68) 0.4460 0.494
rs7046030 0.156 0.675 1.53 (1.29-1.81) 9.85E-07 5.14E-06 rs12683459
0.155 0.916 1.55 (1.31-1.83) 4.86E-07 2.19E-06 rs11788156 0.040 1
1.18 (0.85-1.63) 0.3177 0.588 rs4837839 0.443 0.655 0.97
(0.85-1.11) 0.6753 0.505 rs306783 0.422 0.090 1.07 (0.94-1.22)
0.3286 0.383 rs306784 0.361 0.473 1.08 (0.95-1.24) 0.2536 0.390
rs10818527 0.316 0.484 1.20 (1.05-1.38) 0.0100 0.008 rs16910509
0.152 0.285 0.75 (0.62-0.92) 0.0045 0.002 rs2304393 0.046 0.523
0.78 (0.55-1.09) 0.1402 0.342 rs12683989 0.048 0.218 1.60
(1.22-2.10) 7.02E-04 0.002 rs1560980 0.041 0.487 0.97 (0.69-1.36)
0.8590 0.622 rs7039494 0.189 0.653 0.74 (0.62-0.89) 0.0011 0.004
rs12340264 0.102 0.296 0.91 (0.73-1.14) 0.4284 0.708 rs12554081
0.170 0.437 0.80 (0.66-0.96) 0.0181 0.013 rs17086 rs10818531 0.047
0.360 0.80 (0.57-1.12) 0.1849 0.345 rs367395 0.148 0.445 0.75
(0.62-0.92) 0.0053 0.010 .sup.aPositions according to genomic
conting NT_008470.18 (Entrez Nucleotide). The minor allele is
listed first, followed by the position in National Center for
Biotechnology Information Genome Build 36.2 and then the major
allele. .sup.bMAF is the minor allele frequency.
.sup.cHardy-Weinberg equilibrium testing was accomplished through
the exact test of Weir as described in the Materials and Methods.
.sup.dCalculated using Cochran-Armitage Trend test.
.sup.eCalculated using William's-corrected G test.
TABLE-US-00006 TABLE 7 Minor allele frequencies and allele-based
association of chr 9q33 SNPs with RA - SAMPLE SET 3 (596 Cases/705
Controls) Control Position & Case Genotypes Genotypes Marker
Gene Type Alleles.sup.a 11 12 22 MAF HW.sup.c 11 12 22 rs10984984
MEGF9 intronic T122503297C rs10760112 MEGF9 intronic C122507391T 57
247 284 0.307 0.771 71 283 346 rs10985014 G122538111A rs7026635
FBXW2 intronic G122589848A 54 233 301 0.290 0.368 45 268 387
rs1577001 LOC402377 intronic T122597128C rs7873274 LOC402377
intronic C122599313T rs10985044 A122603331G rs10760117 PSMD5
intronic T122626558G 115 292 180 0.445 0.933 124 319 253 rs10739575
G122645922A 21 170 399 0.180 0.577 23 189 488 rs933003 A122647650G
0 33 558 0.028 1 0 49 651 rs10985051 C122647701A rs13291973
T122654694G rs1837 PHF19 3'UTR T122658050C 54 239 296 0.295 0.553
45 271 383 rs1056567 PHF19 S181S T122671866C 74 271 245 0.355 1 74
300 326 rs10985070 PHF19 intronic C122675942A rs1953126 T122680321C
83 287 221 0.383 0.543 82 322 293 rs1930777 A122680989G rs1609810
G122682172A 84 281 223 0.382 0.794 82 320 297 rs10985073
T122683676C rs7034390 A122686309T rs10818482 A122687906G rs2270231
C122690803G rs2072438 T122691122C rs881375 T122692719C 86 278 223
0.383 1 85 320 294 rs6478486 T122695150C 85 276 224 0.381 1 81 320
297 rs1860824 G122699160T rs10760126 T122702439C rs4836834 TRAF1
3'UTR T122705722A 137 301 151 0.488 0.621 136 332 232 rs10435844
TRAF1 intronic G122708020T rs2239657 TRAF1 P340P G122711341A 85 282
224 0.382 0.862 82 320 298 rs12377786 TRAF1 intronic G122711580T
rs2239658 TRAF1 intronic T122711658C rs7021880 TRAF1 intronic
C122713711G 78 274 238 0.364 1 79 309 312 rs3747841 TRAF1 S170S
A122715622G rs2416804 TRAF1 intronic G122716217C rs2416805 TRAF1
intronic T122716303C rs876445 TRAF1 intronic A122716923T rs10118357
TRAF1 intronic G122719889A rs2269059 TRAF1 intronic A122722293T
rs2191959 TRAF1 intronic A122723655T rs7021049 TRAF1 intronic
G122723803T 138 299 154 0.486 0.805 137 331 232 rs7021206 TRAF1
intronic G122723978A rs1014529 TRAF1 intronic C122724764G rs1930781
TRAF1 intronic G122727655A rs1930782 TRAF1 intronic C122727726T
rs3761846 C122729418T rs2416806 G122730113C rs7864019 A122732689T
rs10760130 G122741811A rs10818488 A122744908G rs2900180 T122746203C
88 283 219 0.389 0.863 85 323 292 rs10760131 G122749962T rs12004487
C5 intronic C122756502T rs16910233 C5 intronic G122763432C
rs2269066 C5 intronic T122776839C 10 115 465 0.114 0.314 7 141 552
rs2269067 C5 intronic C122776861G 33 215 343 0.238 1 25 231 444
rs2159776 C5 intronic C122795981T 134 285 170 0.469 0.508 133 375
192 rs10760134 C5 intronic C122798246T rs7040033 C5 intronic
A122798865G 101 284 205 0.412 0.865 139 350 209 rs10760135 C5
intronic T122802827C rs17611 C5 I802V A122809021G 102 275 209 0.409
0.494 145 341 213 rs10818496 C5 intronic G122814284A rs10985126 C5
G385G C122823755T 26 204 359 0.217 0.717 30 205 465 rs993247 C5
intronic G122825070A rs2416811 C5 intronic T122829455C 101 279 210
0.408 0.610 138 351 211 rs10156396 C5 intronic T122830953C
rs10985132 C5 intronic T122835515C rs10818499 C5 intronic
A122839915T rs9644911 C5 intronic G122848925A rs10739585 C5
intronic G122849360C rs7871371 T122855883C rs7855998 T122855917C
rs7029523 T122857434C rs1924081 A122862268T rs1323472 C122866156G
122 292 176 0.454 1 118 321 261 rs7042135 A122876474C rs6478498
A122877723G rs7856420 G122878978C rs10739586 T122881893A rs6478499
A122882694G rs4837808 A122886441G rs12685539 CEP110 intronic
G122896746T rs10760146 CEP110 intronic T122896906C rs9299273 CEP110
intronic T122898251A rs9657673 CEP110 intronic T122900196C 98 280
213 0.403 0.732 134 342 224 rs7022941 CEP110 intronic G122907291C
rs1998506 CEP110 intronic G122910284A rs4837809 CEP110 intronic
T122913032G rs1407910 CEP110 intronic T122915251C rs2146838 CEP110
intronic G122916126A rs1951784 CEP110 intronic G122916272A
rs10818508 CEP110 intronic G122922855A rs10081760 CEP110 intronic
A122924127G 67 263 261 0.336 1 62 303 332 rs2900185 CEP110 intronic
A122927191G rs4837811 CEP110 intronic T122941415G rs2068055 CEP110
intronic T122943988A rs10760151 CEP110 intronic G122945183A
rs7036541 CEP110 intronic G122945456C rs12683062 CEP110 intronic
T122946625G 11 128 451 0.127 0.577 10 131 559 rs3747843 CEP110
intronic A122954127G 170 281 139 0.526 0.283 180 342 178 rs3736855
CEP110 V1398V A122956841T 102 276 212 0.407 0.444 140 340 220
rs10818512 CEP110 intronic A122957176G rs3736856 CEP110 intronic
G122960384A rs2057466 CEP110 intronic T122966751C rs1535655 CEP110
intronic G122968390A rs2146836 CEP110 intronic A122970117C
rs2302498 CEP110 intronic A122976150T rs7047038 RAB14 intronic
T122986768G rs10760152 RAB14 intronic A122987806C 63 259 269 0.326
1 51 307 342 rs10760153 RAB14 intronic C122988196T rs942152 RAB14
intronic C122991506T 141 293 157 0.486 0.869 137 330 232 rs9408928
RAB14 intronic C122991738T 0 68 522 0.058 0.248 0 84 616 rs9409230
T123007581A 0 60 530 0.051 0.390 1 70 629 rs7030849 C123009655T 129
287 173 0.463 0.620 130 321 249 rs747846 T123022431G rs12343027
T123027074C rs4837817 C123034984G rs4595204 T123056182A rs10985196
GSN intronic A123072865C 35 205 351 0.233 0.490 32 239 429 rs306781
GSN intronic C123082765T 0 14 577 0.012 1 1 11 688 rs11787991 GSN
intronic T123086454G rs7046030 GSN intronic C123087058T 32 195 363
0.219 0.400 25 227 445 rs12683459 GSN intronic A123088119G 32 193
366 0.217 0.334 25 229 446 rs11788156 GSN intronic C123111661G
rs4837839 GSN intronic T123111948C 114 263 214 0.415 0.042 149 329
222 rs306783 GSN intronic T123112418C 131 276 184 0.455 0.159 136
341 223 rs306784 GSN intronic T123112473G 98 270 223 0.394 0.302 87
334 279 rs10818527 GSN intronic A123115075G 83 267 241 0.366 0.535
81 320 299 rs16910509 GSN intronic T123123292C rs2304393 GSN G471G
T123123435C rs12683989 GSN intronic T123125867C 2 67 522 0.060 1 0
83 614 rs1560980 GSN intronic C123133818G rs7039494 GSN intronic
T123134411A rs12340264 STOM intronic T123149742C rs12554081 STOM
intronic A123165145C rs17086 STOM intronic G123165341A rs10818531
STOM intronic T123168845C rs367395 STOM intronic T123171333G
Genotypic Marker MAF.sup.b HW.sup.c OR (95% CI) P.sup.d P.sup.e
rs10984984 rs10760112 0.304 0.246 1.02 (0.86-1.20) 0.8532 0.843
rs10985014 rs7026635 0.256 0.921 1.19 (1.00-1.41) 0.0534 0.118
rs1577001 rs7873274 rs10985044 rs10760117 0.407 0.182 1.16
(1.00-1.36) 0.0599 0.099 rs10739575 0.168 0.347 1.09 (0.89-1.33)
0.4365 0.724 rs933003 0.035 1 0.79 (0.51-1.24) 0.2986 0.298
rs10985051 rs13291973 rs1837 0.258 0.843 1.20 (1.01-1.43) 0.0402
0.101 rs1056567 0.320 0.728 1.17 (0.99-1.38) 0.0612 0.165
rs10985070 rs1953126 0.349 0.677 1.16 (0.99-1.36) 0.0661 0.183
rs1930777 rs1609810 0.346 0.802 1.17 (0.99-1.37) 0.0600 0.171
rs10985073 rs7034390 rs10818482 rs2270231 rs2072438 rs881375 0.351
0.934 1.15 (0.98-1.35) 0.0849 0.227 rs6478486 0.345 0.738 1.17
(0.99-1.37) 0.0585 0.162 rs1860824 rs10760126 rs4836834 0.431 0.397
1.26 (1.08-1.47) 0.0042 0.010 rs10435844 rs2239657 0.346 0.803 1.17
(1.00-1.38) 0.0523 0.153 rs12377786 rs2239658 rs7021880 0.334 0.865
1.15 (0.97-1.35) 0.1020 0.259 rs3747841 rs2416804 rs2416805
rs876445 rs10118357 rs2269059 rs2191959 rs7021049 0.432 0.355 1.24
(1.07-1.45) 0.0062 0.016 rs7021206 rs1014529 rs1930781 rs1930782
rs3761846 rs2416806 rs7864019 rs10760130 rs10818488 rs2900180 0.352
0.804 1.17 (1.00-1.37) 0.0523 0.153 rs10760131 rs12004487
rs16910233 rs2269066 0.111 0.701 1.04 (0.81-1.33) 0.7678 0.544
rs2269067 0.201 0.555 1.24 (1.03-1.50) 0.0222 0.066 rs2159776 0.458
0.040 1.05 (0.90-1.22) 0.5509 0.130 rs10760134 rs7040033 0.450
0.760 0.86 (0.73-1.00) 0.0521 0.143 rs10760135 rs17611 0.451 0.703
0.84 (0.72-0.98) 0.0316 0.096 rs10818496 rs10985126 0.189 0.219
1.19 (0.98-1.44) 0.0799 0.113 rs993247 rs2416811 0.448 0.760 0.85
(0.73-0.99) 0.0401 0.100 rs10156396 rs10985132 rs10818499 rs9644911
rs10739585 rs7871371 rs7855998 rs7029523 rs1924081 rs1323472 0.398
0.269 1.26 (1.08-1.47) 0.0044 0.013 rs7042135 rs6478498 rs7856420
rs10739586 rs6478499 rs4837808 rs12685539 rs10760146 rs9299273
rs9657673 0.436 0.878 0.87 (0.75-1.02) 0.0924 0.240 rs7022941
rs1998506 rs4837809 rs1407910 rs2146838 rs1951784 rs10818508
rs10081760 0.306 0.593 1.15 (0.97-1.35) 0.1072 0.246 rs2900185
rs4837811 rs2068055 rs10760151 rs7036541
rs12683062 0.108 0.433 1.20 (0.95-1.53) 0.1339 0.327 rs3747843
0.501 0.546 1.10 (0.95-1.29) 0.2160 0.431 rs3736855 0.443 0.702
0.86 (0.74-1.01) 0.0681 0.182 rs10818512 rs3736856 rs2057466
rs1535655 rs2146836 rs2302498 rs7047038 rs10760152 0.292 0.121 1.17
(0.99-1.38) 0.0681 0.088 rs10760153 rs942152 0.432 0.317 1.25
(1.07-1.45) 0.0064 0.021 rs9408928 0.060 0.166 0.96 (0.69-1.33)
0.7920 0.792 rs9409230 0.051 1 0.99 (0.70-1.40) 0.9379 0.612
rs7030849 0.415 0.140 1.21 (1.04-1.42) 0.0173 0.048 rs747846
rs12343027 rs4837817 rs4595204 rs10985196 0.216 0.912 1.10
(0.91-1.32) 0.3268 0.513 rs306781 0.009 0.055 1.28 (0.60-2.73)
0.5371 0.404 rs11787991 rs7046030 0.199 0.634 1.13 (0.94-1.37)
0.1970 0.258 rs12683459 0.199 0.555 1.12 (0.92-1.35) 0.2590 0.272
rs11788156 rs4837839 0.448 0.194 0.88 (0.75-1.02) 0.1082 0.226
rs306783 0.438 0.818 1.07 (0.92-1.25) 0.3858 0.477 rs306784 0.363
0.415 1.14 (0.97-1.34) 0.1018 0.106 rs10818527 0.344 0.802 1.10
(0.94-1.29) 0.2448 0.399 rs16910509 rs2304393 rs12683989 0.060
0.163 1.01 (0.73-1.40) 0.9442 0.241 rs1560980 rs7039494 rs12340264
rs12554081 rs17086 rs10818531 rs367395 .sup.aPositions according to
genomic conting NT_008470.18 (Entrez Nucleotide). The minor allele
is listed first, followed by the position in National Center for
Biotechnology Information Genome Build 36.2 and then the major
allele. .sup.bMAF is the minor allele frequency.
.sup.cHardy-Weinberg equilibrium testing was accomplished through
the exact test of Weir as described in the Materials and Methods.
.sup.dCalculated using Cochran-Armitage Trend test.
.sup.eCalculated using William's-corrected G test.
TABLE-US-00007 TABLE 8 Demographic and clinical information Sample
Set Subphenotype 1.sup.a 2.sup.b 3.sup.c Genetic background White
White White (North American) (North American) (Dutch) No. of cases
475 661 596 No. of controls 475 1322 705 Female:male 314:161
536:125 362:196.sup.d Average age of 46.97 .+-. 11.83 38.61 .+-.
13.61 54.58.sup.e .+-. 13.38 onset (years) % RF-positive 100% 82%
72%.sup.f .sup.aAll 950 samples were genotyped for a single SNP,
rs10818488, in the candidate gene study performed by Kurreeman et
al [35]. .sup.b475 patient samples were included in the initial
whole genome association study performed by Plenge et al [34].
.sup.c436 patients and 94 controls samples were included in the
candidate gene study performed by Kurreeman et al [35].
.sup.dInformation on gender was available for 558 patients.
.sup.eInformation on age of onset was available for 306 patients.
.sup.fInformation on RF status was available for 440 patients.
TABLE-US-00008 TABLE 9 Combined analysis of 43 chr 9q33.2 SNPs
genotyped in all three RA sample sets Combined Analysis
OR.sub.common Trend Genotypic Marker Gene Type Position &
Alleles.sup.a (95% CI).sup.b P.sub.comb.sup.c P.sub.comb.sup.c
rs10760112 MEGF9 intronic C122507391T 1.17 (1.02-1.23) 0.035 0.136
rs7026635 FBXW2 intronic G122589848A 1.24 (1.10-1.35) 0.001 0.012
rs10760117 PSMD5 intronic T122626558G 1.26 (1.10-1.31) 2.79E-04
0.003 rs10739575 G122645922A 1.16 (1.03-1.30) 0.081 0.349 rs933003
A122647650G 1.12 (0.79-1.40) 0.255 0.243 rs1837 PHF19 3'UTR
T122658050C 1.28 (1.12-1.36) 2.17E-04 0.002 rs1056567 PHF19 S181S
T122671866C 1.25 (1.12-1.35) 1.11E-04 0.002 rs1953126 T122680321C
1.28 (1.16-1.40) 1.45E-06 4.24E-05 rs1609810 G122682172A 1.29
(1.19-1.42) 1.92E-07 5.24E-06 rs881375 T122692719C 1.27 (1.17-1.41)
4.69E-07 1.09E-05 rs6478486 T122695150C 1.29 (1.19-1.42) 1.35E-07
3.75E-06 rs4836834 TRAF1 3'UTR T122705722A 1.32 (1.19-1.43)
8.13E-08 1.84E-06 rs2239657 TRAF1 P340P G122711341A 1.29
(1.19-1.43) 1.49E-07 3.89E-06 rs7021880 TRAF1 intronic C122713711G
1.33 (1.21-1.46) 5.41E-09 2.27E-07 rs7021049 TRAF1 intronic
G122723803T 1.32 (1.20-1.43) 4.09E-08 1.22E-06 rs2900180
T122746203C 1.27 (1.18-1.41) 3.32E-07 7.62E-06 rs2269066 C5
intronic T122776839C 1.29 (1.14-1.53) 1.68E-04 0.001 rs2269067 C5
intronic C122776861G 1.27 (1.17-1.46) 1.71E-05 1.04E-04 rs2159776
C5 intronic C122795981T 1.11 (0.99-1.19) 0.190 0.135 rs7040033 C5
intronic A122798865G 0.86 (0.80-0.96) 0.018 0.060 rs17611 C5 I802V
A122809021G 0.84 (0.79-0.94) 0.006 0.040 rs10985126 C5 G385G
C122823755T 1.20 (1.11-1.39) 8.69E-04 0.001 rs2416811 C5 intronic
T122829455C 0.85 (0.79-0.95) 0.008 0.023 rs1323472 C122866156G 1.23
(1.12-1.34) 1.57E-04 7.06E-04 rs9657673 CEP110 intronic T122900196C
0.86 (0.81-0.96) 0.019 0.052 rs10081760 CEP110 intronic A122924127G
1.15 (1.03-1.25) 0.049 0.066 rs12683062 CEP110 intronic T122946625G
1.12 (1.00-1.33) 0.209 0.029 rs3747843 CEP110 intronic A122954127G
1.13 (1.01-1.21) 0.108 0.304 rs3736855 CEP110 V1398V A122956841T
0.87 (0.82-0.98) 0.048 0.191 rs10760152 RAB14 intronic A122987806C
1.15 (1.05-1.27) 0.028 0.024 rs942152 RAB14 intronic C122991506T
1.18 (1.11-1.32) 2.53E-04 0.002 rs9408928 RAB14 intronic
C122991738T 1.11 (0.93-1.38) 0.364 0.378 rs9409230 T123007581A 1.14
(0.93-1.40) 0.499 0.217 rs7030849 C123009655T 1.18 (1.08-1.29)
0.003 0.014 rs10985196 GSN intronic A123072865C 1.25 (1.18-1.46)
6.33E-07 4.12E-06 rs306781 GSN intronic C123082765T 0.68
(0.59-1.16) 0.119 0.284 rs7046030 GSN intronic C123087058T 1.26
(1.18-1.47) 2.05E-06 1.99E-05 rs12683459 GSN intronic A123088119G
1.25 (1.18-1.47) 1.36E-06 9.79E-06 rs4837839 GSN intronic
T123111948C 0.85 (0.82-0.97) 0.021 0.076 rs306783 GSN intronic
T123112418C 1.11 (1.00-1.19) 0.198 0.405 rs306784 GSN intronic
T123112473G 1.15 (1.03-1.24) 0.049 0.131 rs10818527 GSN intronic
A123115075G 1.21 (1.08-1.31) 0.001 0.004 rs12683989 GSN intronic
T123125867C 1.17 (1.05-1.50) 0.016 0.010 .sup.aPositions according
to genomic contig NT_008470.18 (Entrez Nucleotide). The minor
allele is listed first, followed by the position in National Center
for Biotechnology Information Genome Build 36.2 and then the major
allele. .sup.bCalculated for the minor allele using a
Mantel-Haenszel common OR. .sup.cCalculated using Fisher's combined
test.
TABLE-US-00009 TABLE 10 Three-SNP haplotypes for LD Block 1 Sample
Set 1 Sample Set 2 Global P = 6.00E-04.sup.a Global P =
3.77E-05.sup.a No. (Frequency) in No. (Frequency) in
Haplotype.sup.c Case Control P OR Case Control P OR AGT 507 (0.539)
582 (0.619) 5.08E-04 0.72 708 (0.537) 1595 (0.605) 4.01E-05 0.76
GCG 326 (0.347) 253 (0.269) 2.13E-04 1.44 457 (0.347) 714 (0.271)
8.71E-07 1.43 AGG 85 (0.090) 71 (0.075) 0.250 1.22 108 (0.082) 232
(0.088) 0.540 0.93 GGG 22 (0.023) 32 (0.034) 0.168 0.68 41 (0.031)
92 (0.035) 0.539 0.89 Other 0 2 (0.002) 4 (0.003) 3 (0.001) Sample
Set 3 Combined Global P = 0.033.sup.a Global P.sub.comb.sup.b =
1.81E-07 No. (Frequency) in OR.sub.common Haplotype.sup.c Case
Control P OR P.sub.comb.sup.b (95% CI).sup.d AGT 604 (0.512) 794
(0.567) 0.005 0.8 3.08E-08 0.76 (0.70-0.83) GCG 425 (0.360) 465
(0.332) 0.133 1.13 8.00E-09 1.32 (1.21-1.45) AGG 122 (0.103) 120
(0.086) 0.127 1.22 NC 1.09 (0.93-1.27) GGG 25 (0.021) 20 (0.014)
0.135 1.49 NC 0.93 (0.70-1.21) Other 5 (0.004) 1 (0.001) .sup.aThe
Haplo.Stats package was used to test for association between
haplotypes and disease status. .sup.bCalculated for haplotypes with
the same effect (risk or protection) in all three sample sets, with
use of Fisher's combined test. .sup.cThese haplotypes consist of
the following SNPs: rs2239657, rs7021880, and rs7021049,
respectively.
TABLE-US-00010 TABLE 11 Diplotype Analysis for the TRAF1-region
SNPs rs2239657, rs7021880 and rs7021049 Sample Set 1 Sample Set 2
Global.sup.a P = 0.0069 Global.sup.a P = 1.3E-04 No. (Frequency) in
No. (Frequency) in Diplotype.sup.c Case Control P.sup.d OR Case
Control P.sup.d OR AGT/AGT 140 (0.297) 180 (0.383) 0.006 0.68 183
(0.278) 482 (0.366) 8.21E-05 0.67 AGT/Other 51 (0.108) 64 (0.136)
0.197 0.77 86 (0.131) 204 (0.155) 0.157 0.82 AGT/GCG 178 (0.377)
158 (0.336) 0.197 1.20 255 (0.387) 426 (0.324) 0.006 1.32 GCG/GCG
51 (0.108) 34 (0.072) 0.068 1.55 76 (0.115) 100 (0.076) 0.004 1.59
GCG/Other 46 (0.098) 27 (0.057) 0.028 1.77 50 (0.076) 87 (0.066)
0.452 1.16 Other/Other 6 (0.013) 7 (0.015) 0.789 0.85 9 (0.014) 18
(0.014) 1.000 1.00 Sample Set 3 Combined Analysis Global.sup.a P =
0.058 Global.sup.b P.sub.comb = 8.22E-06 No. (Frequency) in
OR.sub.common.sup.f Diplotype.sup.c Case Control P.sup.d OR
P.sub.comb.sup.e (95% CI) AGT/AGT 153 (0.259) 232 (0.331) 0.005 0.7
5.35E-07 0.68 (0.59-0.78) AGT/Other 81 (0.137) 73 (0.104) 0.085
1.36 NC 0.94 (0.78-1.13) AGT/GCG 218 (0.369) 257 (0.367) 0.954 1.01
0.035 1.18 (1.04-1.34) GCG/GCG 77 (0.130) 78 (0.111) 0.304 1.19
0.005 1.42 (1.16-1.75) GCG/Other 54 (0.091) 52 (0.074) 0.309 1.25
0.086 1.32 (1.04-1.66) Other/Other 8 (0.014) 8 (0.011) 0.804 1.19
NC 1.01 (0.56-1.72) .sup.aCalculated using a Williams-corrected G
test. .sup.bCalculated using Fisher's combined test. .sup.cAllele 1
rs2239657 - allele 1 rs7021880 - allele 1 rs7021049/allele 2
rs2239657 - allele 2 rs7021880 - allele 2 rs7021049. .sup.dP-values
calculated using Fisher's exact test. .sup.eCalculated for
diplotypes with the same effect (risk or protection) in all three
sample sets, with use of Fisher's combined test.
.sup.fMantel-Haenszel common odds ratio with confidence intervals
from Monte Carlo simulation.
TABLE-US-00011 TABLE 12 Genotype counts of rs2239657, rs7021880 and
rs7021049 stratified by the presence of rheumatoid factor rs2239657
rs7021880 Genotypes Genotypes GG GA AA MAF P.sup.a OR.sub.Allelic
CC CG GG MAF P.sup.a OR.sub.Allelic Sample Set 1.sup.b RF-positive
cases 62 224 184 0.370 0.008 1.35 (1.11- 1.63) 51 225 195 0.347
0.001 1.43 (1.17- 1.74) controls 45 195 229 0.304 34 187 249 0.271
Sample Set 2 RF-positive cases 68 268 206 0.373 5.60E-04 1.32
(1.14- 1.55) 62 250 229 0.346 2.39E-04 1.27 (1.08- 1.49) matched
controls 106 457 520 0.309 87 425 571 0.277 RF-negative cases 19 57
41 0.406 0.013 1.63 (1.18- 2.27) 15 56 46 0.368 0.005 1.74 (1.24-
2.44) matched controls 19 100 115 0.295 13 91 130 0.250
Breslow-Day.sup.c 0.263 0.222 Sample Set 3 RF-positive cases 47 156
111 0.398 0.07 1.25 (1.03- 1.52) 42 151 121 0.374 0.184 1.19 (0.98-
1.45) RF-negative cases 13 63 46 0.364 0.483 1.09 (0.82- 1.44) 12
63 47 0.357 0.312 1.11 (0.83- 1.47) Controls 82 320 298 0.346 79
309 312 0.334 Monte Carlo.sup.d 0.218 0.645 Combined RF-positive
cases.sup.e 4.02E-05 7.10E-06 RF-negative cases.sup.f 0.038 0.013
rs7021049 Genotypes GG GT TT MAF P.sup.a OR.sub.Allelic Sample Set
1.sup.b RF-positive cases 103 229 140 0.461 0.002 1.39 (1.16-1.67)
controls 68 222 180 0.381 Sample Set 2 RF-positive cases 107 283
152 0.458 8.77E-04 1.30 (1.12-1.50) matched controls 175 505 403
0.395 RF-negative cases 26 59 32 0.474 0.054 1.41 (1.02-1.93)
matched controls 29 125 80 0.391 Breslow-Day.sup.c 0.656 Sample Set
3 RF-positive cases 73 164 77 0.494 0.019 1.28 (1.06-1.55)
RF-negative cases 21 67 34 0.447 0.297 1.06 (0.81-1.39) Controls
137 331 232 0.432 Monte Carlo.sup.d 0.116 Combined RF-positive
cases.sup.e 5.68E-06 RF-negative cases.sup.f 0.082 .sup.aGenotypic
P-values were calculated except where indicated. .sup.bAll cases in
this study were RF-positive. .sup.cDifferental effects between
RF-positive and RF-negative association were determined for sample
set 2 using a Breslow-Day test (cases and controls were
individually matched). .sup.dDifferential effects between
RF-positive and RF-negative association were determined for sample
set 3 using a Monte Carlo simulation (cases and controls were not
individually matched). .sup.eIncludes all three sample sets.
.sup.fIncludes sample sets 2 and 3.
TABLE-US-00012 TABLE 13 Pairwise logistic regression analysis of
the 27 chr9q33.2 SNPs P adjusted for r.sup.2 with P adjusted for
rs7021049 & Group.sup.a Marker rs7021049.sup.b P.sup.c
rs7021049 rs10985196 3 rs10760112 0.157 0.357 0.285 0.770 4
rs10760117 0.329 0.011 0.760 0.579 5 rs10739575 0.086 0.055 0.580
0.893 6 rs933003 0.011 0.757 0.420 0.448 7 rs1837, rs7026635 0.151
0.002 0.169 0.126 8 rs1056567 0.243 5.22E-04 0.200 0.208 1
rs2239657, rs1953126, rs1609810, rs881375, rs6478486, rs2900180
0.685 2.52E-06 0.217 0.254 9 rs7021880 0.607 1.39E-06 0.104 0.072 2
rs7021049, rs4836834 1 1.24E-06 -- -- 10 rs2269066 0.114 0.002
0.115 0.094 11 rs2269067 0.261 7.64E-06 0.023 0.175 12 rs2159776
0.143 0.291 0.367 0.598 13 rs17611, rs7040033, rs2416811,
rs9657673, rs3736855 0.328 0.011 0.716 0.450 14 rs10985126 0.206
1.86E-04 0.103 0.992 15 rs1323472, rs7030849 0.585 1.99E-04 0.935
0.415 16 rs12683062 0.113 0.042 0.696 0.327 17 rs3747843 0.337
0.112 0.123 0.059 18 rs10760152, rs10081760 0.297 0.007 0.933 0.790
19 rs942152 0.434 2.92E-05 0.161 0.919 20 rs9408928, rs9409230
0.063 0.270 0.955 0.307 21 rs10985196, rs7046030, rs12683459 0.089
6.17E-06 0.001 -- 22 rs306781 0.015 0.905 0.661 0.147 23 rs4837839
0.079 0.171 0.988 0.667 24 rs306783 0 0.192 0.210 0.987 25 rs306784
0.009 0.054 0.144 0.876 26 rs10818527 0.02 0.007 0.044 0.368 27
rs12683989 0.019 0.009 0.054 0.573 .sup.aSNPs were grouped together
if their pairwise r.sup.2 values were >0.90. The first SNP in
each group was used for the analyses. With the exception of Groups
1 and 2, they are listed in the order of appearance on the
chromosome (for groups of SNPs, the position of the first SNP was
used). .sup.bPairwise LD between rs7021049 and each of the 27 other
SNPs as measured by r.sup.2 in the cases and controls of the
combined analysis of all three sample sets. .sup.cUnivariate
analysis using logistic regression.
TABLE-US-00013 TABLE 14 Global P-values for backwards and forwards
models using logistic regression..sup.a Building Sample Tested
Sample Sets Set Model SNPs.sup.b 1 2 3 Combined 1 Forward
rs10760117 0.0022 0.135 0.165 1.31E-22 2 Forward rs7021880,
rs12683062, rs10985196, rs4837839, rs12683989 0.067 6.40E-10 0.419
7.38E-25 3 Forward rs2159776, rs1323472 0.051 0.084 0.0048 1.08E-22
Combined Forward rs7021049, rs10985196 0.010 8.25E-08 0.089
1.15E-27 1 Backward rs10985126, rs2269066, rs10760152, rs306781,
rs1323472, rs1837 1.25E-04 5.82E-04 0.077 7.89E-23 2 Backward Same
Model as Sample Set 2-Forward 0.067 6.40E-10 0.419 7.38E-25 3
Backward rs2159776, rs3747843, rs2269066, rs2269067, rs1323472
0.0963 0.0018 0.0037 4.33E-24 Combined Backward rs10818527,
rs3747843, rs7021880, rs2269067, rs1323472 0.023 1.43E-06 0.063
5.61E-28 .sup.aCalculated using the log likelihood ratio test.
.sup.bSNPs included in each model.
TABLE-US-00014 TABLE 15 RA risk estimates for 3 loci - HLA-SE,
PTPN22 and TRAF1 - assuming a disease prevalence of 1%, 10% and
30%. Disease Prevalence Loci 1% 10% HLA.sup.a PTPN22.sup.b
TRAF1.sup.c P(MLG).sup.d P(RA|MLG).sup.e RR.sup.f SRR.sup.g
P(MLG).sup.d P(RA|MLG).sup.e RR.sup.f SRR.sup.g 0SE CC AGT/AGT
0.189 0.003 0.29 (0.21-0.38) 1.00 0.176 0.031 0.31 (0.23-0.40) 1.00
0SE CC Other 0.269 0.004 0.41 (0.33-0.50) 1.41 0.254 0.043 0.43
(0.35-0.52) 1.39 0SE TT + TC AGT/AGT 0.039 0.005 0.50 (0.27-0.85)
1.73 0.037 0.053 0.53 (0.29-0.86) 1.70 0SE CC GCG/GCG 0.036 0.006
0.56 (0.30-0.94) 1.92 0.034 0.058 0.58 (0.32-0.94) 1.87 0SE TT + TC
Other 0.055 0.007 0.71 (0.46-1.05) 2.44 0.054 0.073 0.73
(0.49-1.05) 2.35 0SE TT + TC GCG/GCG 0.007 0.010 0.96 (0.69-1.16)
3.33 0.007 0.097 0.97 (0.71-1.14) 3.12 1SE CC AGT/AGT 0.114 0.009
0.90 (0.29-3.26) 3.09 0.113 0.090 0.90 (0.31-2.70) 2.92 1SE CC
Other 0.162 0.013 1.26 (1.05-1.53) 4.35 0.166 0.123 1.23
(1.04-1.46) 3.98 1SE TT + TC AGT/AGT 0.024 0.015 1.55 (0.92-2.70)
5.34 0.025 0.147 1.47 (0.94-2.34) 4.76 1SE CC GCG/GCG 0.022 0.017
1.71 (1.00-3.09) 5.92 0.023 0.161 1.61 (1.00-2.60) 5.20 1SE TT + TC
Other 0.034 0.022 2.17 (1.48-3.37) 7.49 0.037 0.196 1.96
(1.41-2.77) 6.33 1SE TT + TC GCG/GCG 0.005 0.029 2.94 (1.11-13.91)
10.15 0.005 0.250 2.50 (1.10-6.40) 8.07 2SE CC AGT/AGT 0.014 0.043
4.29 (2.62-8.45) 14.82 0.019 0.330 3.30 (2.26-5.04) 10.67 2SE CC
Other 0.021 0.060 5.95 (3.98-10.07) 20.55 0.030 0.410 4.10
(3.12-5.49) 13.26 2SE TT + TC AGT/AGT 0.003 0.072 7.23 (2.75-100)
24.95 0.005 0.462 4.62 (2.39-10) 14.90 2SE CC GCG/GCG 0.003 0.080
7.96 (2.94-100) 27.48 0.005 0.488 4.88 (2.58-10) 15.74 2SE TT + TC
Other 0.004 0.099 9.91 (4.62-34.44) 34.20 0.008 0.547 5.47
(3.47-8.57) 17.68 2SE TT + TC GCG/GCG 0.0006 0.131 13.06 (NC).sup.h
.sup. 45.10 0.001 0.623 6.23 (NC).sup.h .sup. 20.12 Disease
Prevalence Loci 30% HLA.sup.a PTPN22.sup.b TRAF1.sup.c PTPN22.sup.b
TRAF1.sup.c P(MLG).sup.d P(RA|MLG).sup.e RR.sup.f SRR.sup.g 0SE CC
AGT/AGT CC AGT/AGT 0.149 0.110 0.37 (0.27-0.46) 1.00 0SE CC Other
CC Other 0.222 0.148 0.49 (0.41-0.59) 1.35 0SE TT + TC AGT/AGT TT +
TC AGT/AGT 0.033 0.176 0.59 (0.34-0.89) 1.61 0SE CC GCG/GCG CC
GCG/GCG 0.031 0.192 0.64 (0.38-0.97) 1.75 0SE TT + TC Other TT + TC
Other 0.051 0.232 0.77 (0.55-1.04) 2.11 0SE TT + TC GCG/GCG TT + TC
GCG/GCG 0.007 0.292 0.97 (0.36-1.96) 2.66 1SE CC AGT/AGT CC AGT/AGT
0.110 0.277 0.92 (0.76-1.11) 2.53 1SE CC Other CC Other 0.175 0.351
1.17 (1.03-1.32) 3.20 1SE TT + TC AGT/AGT TT + TC AGT/AGT 0.027
0.400 1.33 (0.95-1.80) 3.65 1SE CC GCG/GCG CC GCG/GCG 0.026 0.425
1.42 (1.00-1.91) 3.88 1SE TT + TC Other TT + TC Other 0.045 0.485
1.62 (1.30-1.99) 4.42 1SE TT + TC GCG/GCG TT + TC GCG/GCG 0.007
0.563 1.88 (1.07-2.93) 5.13 2SE CC AGT/AGT CC AGT/AGT 0.028 0.656
2.19 (1.76-2.65) 5.97 2SE CC Other CC Other 0.051 0.729 2.43
(2.12-2.75) 6.64 2SE TT + TC AGT/AGT TT + TC AGT/AGT 0.009 0.768
2.56 (1.83-3.33) 7.00 2SE CC GCG/GCG CC GCG/GCG 0.009 0.786 2.62
(1.91-3.33) 7.16 2SE TT + TC Other TT + TC Other 0.016 0.824 2.75
(2.25-3.19) 7.50 2SE TT + TC GCG/GCG TT + TC GCG/GCG 0.003 0.864
2.88 (NC).sup.h .sup. 7.88 .sup.aThe number of copies of the
HLA-DRB1 shared epitope (SE). SE.sup.+ HLA-DRB1 alleles include:
0101, 0102, 0401, 0404, 0405, 0408 and 1001. .sup.bThe PTPN22 R620W
genotype (CC indicates homozygosity for the protective R620 allele;
TT + TC indicates carriage of the risk W620 allele). .sup.cThe
TRAF1 diplotype (allele 1 rs2239657- allele 1 rs7021880 - allele 1
rs7021049/allele 2 rs2239657 - allele 2 rs7021880 - allele 2
rs7021049). .sup.dProbability of the indicated 3-locus genotype.
.sup.eProbability of RA given the indicated 3-locus genotype.
.sup.fRelative risk and 95% confidence intervals from Monte Carlo
simulations using 10,000 replicates. .sup.gStandardized relative
risk estimates setting the lowest value in each group to one.
.sup.h95% CIs were not calculated due to small counts.
TABLE-US-00015 TABLE 16 HapMap SNPs in high LD (r.sup.2 > 0.85)
with rs7021049 and rs2239657. a. rs7021049.sup.a r.sup.2 with SNP
rs7021049 Position.sup.b Region rs10985070 0.967 122675942 PHF19
rs10985073 0.967 122683676 PHF19-TRAF1 intergenic rs10818482 0.967
122687906 PHF19-TRAF1 intergenic rs2072438 0.967 122691122
PHF19-TRAF1 intergenic rs10760126 1 122702439 PHF19-TRAF1
intergenic rs4836834 1 122705722 TRAF1 rs2416804 0.967 122716217
TRAF1 rs10118357 1 122719889 TRAF1 rs2269060 1 122723390 TRAF1
rs7037195 1 122723821 TRAF1 rs1014530 1 122724913 TRAF1 rs3761846 1
122729418 TRAF1-C5 intergenic rs3761847 0.967 122730060 TRAF1-C5
intergenic rs10760129 1 122740004 TRAF1-C5 intergenic rs10760130 1
122741811 TRAF1-C5 intergenic rs10818488 1 122744908 TRAF1-C5
intergenic b. rs2239657 r.sup.2 with SNP rs2239657 Position.sup.b
Region rs1953126 0.934 122680321 5' PHF19 rs1930778 0.96 122681190
PHF19-TRAF1 intergenic rs1609810 0.961 122682172 PHF19-TRAF1
intergenic rs7034390 0.934 122686309 PHF19-TRAF1 intergenic
rs10760121 0.934 122687736 PHF19-TRAF1 intergenic rs2270231 0.934
122690803 PHF19-TRAF1 intergenic rs881375 0.934 122692719
PHF19-TRAF1 intergenic rs6478486 0.934 122695150 PHF19-TRAF1
intergenic rs1468671 0.966 122697323 PHF19-TRAF1 intergenic
rs1860824 0.965 122699160 PHF19-TRAF1 intergenic rs7046108 0.966
122700160 PHF19-TRAF1 intergenic rs10435843 0.966 122707854 TRAF1
rs10435844 0.966 122708020 TRAF1 rs2239658 0.966 122711658 TRAF1
rs7021880 0.894 122713711 TRAF1 rs2416805 0.966 122716303 TRAF1
rs758959 0.966 122716520 TRAF1 rs876445 0.966 122716923 TRAF1
rs2109895 0.966 122717648 TRAF1 rs7021206 0.965 122723978 TRAF1
rs1014529 0.966 122724764 TRAF1 rs1930780 0.966 122726040 TRAF1
rs1930781 0.966 122727655 TRAF1 rs2416806 0.966 122730113 TRAF1-C5
intergenic rs7864019 0.966 122732689 TRAF1-C5 intergenic rs10739580
0.966 122735103 TRAF1-C5 intergenic rs10733648 0.966 122740600
TRAF1-C5 intergenic rs4837804 0.863 122745125 TRAF1-C5 intergenic
rs7039505 1 122745766 TRAF1-C5 intergenic rs2900180 0.962 122746203
TRAF1-C5 intergenic .sup.ars1930782 at position 122727726, which
was genotyped in this study but not in the HapMap, is in strong LD
with rs7021049 (r.sup.2 > 0.95). .sup.bPositions according to
genomic conting NT_008470.18 (Entrez Nucleotide).
TABLE-US-00016 Gene Number: 1 Gene Symbol C5 - 727 Gene Name:
complement component 5 Transcript Accession: NM_001735 Protein
Accession: NP_001726 Chromosome: 9 OMIM NUMBER: 120900 OMIM
Information: C5 deficiency (1) Transcript Sequence (SEQ ID NO: 1):
Protein Sequence (SEQ ID NO: 17): SNP Information Context (SEQ ID
NO: 33):
CAAACTGAATTTGGTTGCTACTCCTCTTTTCCTGAAGCCTGGGATTCCATATCCCATCAAGGTGCAGGTTAAAG-
ATTCGCTTGACCAGTTGGTAGGAGGA R
TCCCAGTAACACTGAATGCACAAACAATTGATGTAAACCAAGAGACATCTGACTTGGATCCAAGCAAAAGTGTA-
ACACGTGTTGATGATGGAGTAGCTTC Celera SNP ID: hCV25473087 Public SNP
ID: rs10985126 SNP Chromosome Position: 122823755 SNP in Transcript
Sequence SEQ ID NO: 1 SNP Position Transcript: 1186 SNP Source:
Applera Population(Allele,Count): Gaucasian (G,1|A,33) African
American (G,9|A,25) total (G,10|A,58) SNP Type: ESE Protein Coding:
SEQ ID NO: 17, at position None SNP Source: dbSNP; Applera
Population(Allele,Count): Gaucasian (A,87|G,29) SNP Type: ESE
Protein Coding: SEQ ID NO: 17, at position None Context (SEQ ID NO:
34):
TTTCCAGAAAGCTGGTTGTGGGAAGTTCATCTTGTTCCCAGAAGAAAACAGTTGCAGTTTGCCCTACCTGATTC-
TCTAACCACCTGGGAAATTCAAGGCG R
TGGCATTTCAAACACTGGTATATGTGTTGCTGATACTGTCAAGGCAAAGGTGTTCAAAGATGTCTTCCTGGAAA-
TGAATATACCATATTCTGTTGTACGA Celera SNP ID: hCV11720402 Public SNP
ID: rs17611 SNP Chromosome Position: 122809021 SNP in Transcript
Sequence SEQ ID NO: 1 SNP Position Transcript: 2435 SNP Source:
dbSNP; HapMap; ABI_Val Population(Allele,Count): Gaucasian
(G,76|A,44) SNP Type: Missense Mutation Protein Coding: SEQ ID NO:
17, at position 802,(V,GTT) (I,ATT) Context (SEQ ID NO: 35):
CTTTGGCACGAGGGAGAAATTTTCAGATGCATCTTATCAAAGTATAAACATTCCAGTAACACAGAACATGGTTC-
CTTCATCCCGACTTCTGGTCTATTAC Y
TCGTCACAGGAGAACAGACAGCAGAATTAGTGTCTGATTCAGTCTGGTTAAATATTGAAGAAAAATGTGGCAAC-
CAGCTCCAGGTTCATCTGTCTCCTGA Celera SNP ID: hCV2359571 Public SNP ID:
rs25681 SNP Chromosome Position: 122819826 SNP in Transcript
Sequence SEQ ID NO: 1 SNP Position Transcript: 1663 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP:
hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (T,13|C,19) Tfrican Tmerican
(T,9|C,29) total (T,22|C,48) SNP Type: Silent Mutation Protein
Coding: SEQ ID NO: 17, at position 544,(Y,TAC) (Y,TAT) SNP Source:
Applera Population(Allele,Count): Caucasian (T,14|C,22) Tfrican
Tmerican (T,9|C,29) total (T,23|C,51) SNP Type: Silent Mutation
Protein Coding: SEQ ID NO: 17, at position 544,(Y,TAC) (Y,TAT) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,76|T,44) SNP Type: Silent Mutation Protein Coding: SEQ
ID NO: 17, at position 544,(Y,TAC) (Y,TAT) Context (SEQ ID NO: 36):
CCACTACAGAGGCTACGGAAACTCTGATTACAAACGCATAGTAGCATGTGCCAGCTACAAGCCCAGCAGGGAAG-
AATCATCATCTGGATCCTCTCATGCG R
TGATGGACATCTCCTTGCCTACTGGAATCAGTGCAAATGAAGAAGACTTAAAAGCCCTTGTGGAAGGGGTGGAT-
CAACTATTCACTGATTACCAAATCAA Celera SNP ID: hCV25613570 Public SNP
ID: rs12237774 SNP Chromosome Position: 122765792 SNP in Transcript
Sequence SEQ ID NO: 1 SNP Position Transcript: 4297 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Gaucasian (G,39|A,1) African American
(G,34|A,4) total (G,73|A,5) SNP Type: Silent Rare Codon Protein
Coding: SEQ ID NO: 17, at position 1422,(A,GCG) (A,GCA) SNP Source:
dbSNP; HapMap Population(Allele,Count): Gaucasian (G,118|A,2) SNP
Type: Silent Rare Codon Protein Coding: SEQ ID NO: 17, at position
1422,(A,GCG) (A,GCA) Gene Number: 2 Gene Symbol CEP110 - 11064 Gene
Name: centrosomal protein 110kDa Transcript Accession: NM_007018
Protein Accession: NP_008949 Chromosome: 9 OMIM NUMBER: 605496 OMIM
Information: Transcript Sequence (SEQ ID NO: 2): Protein Sequence
(SEQ ID NO: 18): SNP Information Context (SEQ ID NO: 37):
TCTTTTGCAAGAGAAGAAAAGCTTAGAGTGTGAAGTAGAAGAATTACATAGAACTGTCCAGAAACGTCAACAGC-
AAAAGGACTTCATTGATGGAAATGTT W
AGAGTCTTATGACTGAACTAGAAATAGAAAAATCACTCAAACATCATGAAGATATTGTAGATGAAATTGAGTGC-
ATTGAGAAGACTCTTCTGAAACGTCG Celera SNP ID: hCV3045800 Public SNP ID:
rs3736855 SNP Chromosome Position: 122956841 SNP in Transcript
Sequence SEQ ID NO: 2 SNP Position Transcript: 4226 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,76|A,44) SNP Type: ESS Protein Coding: SEQ ID NO: 18,
at position None Context (SEQ ID NO: 38):
ATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTCA-
TTCTGGAGGACAGTGGTGTGAGCAAG K
TGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGAGCTGATTCACATGCAGGAGTTA-
GATATATTACAGAGGCCCTCATTAAA Celera SNP ID: hCV25965958 Public SNP
ID: rs10985153 SNP Chromosome Position: 122898384 SNP in Transcript
Sequence SEQ ID NO: 2 SNP Position Transcript: 198 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (G,0|T,36) African American
(G,5|T,29) total (G,5|T,65) SNP Type: TFBS synonymous Protein
Coding: SEQ ID NO: 18, at position None SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,115|G,1) SNP Type: TFBS
synonymous Protein Coding: SEQ ID NO: 18, at position None Context
(SEQ ID NO: 39):
ATATTCCAGTATGGTTAGGGAAGAAGTTAAAATCTTTGCGAGTCCTCAATTTGAAAGGCAACAAGATATCATCG-
CTCCAAGATATAAGCAAGTTGAAACC Y
CTTCAAGATTTGATTTCTCTGATCCTAGTTGAAAATCCAGTTGTGACCCTTCCTCATTACCTCCAGTTTACCAT-
TTTCCACCTCCGTTCATTGGAAAGTT Celera SNP ID: hCV25968825 Public SNP
ID: rs10818504 SNP Chromosome Position: 122900510 SNP in Transcript
Sequence SEQ ID NO: 2 SNP Position Transcript: 679 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source:
Applera Population(Allele,Count): Caucasian (C,22|T,16) African
American (C,27|T,11) total (C,49|T,27) SNP Type: Missense Mutation
Protein Coding: SEQ ID NO: 18, at position 216,(P,CCG) (L,CTG) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,76|T,44) SNP Type: Missense Mutation Protein Coding: SEQ ID NO:
18, at position 216,(P,CCG) (L,CTG) Context (SEQ ID NO: 40):
ATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTCA-
TTCTGGAGGACAGTGGTGTGAGCAAG R
TGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGAGCTGATTCACATGCAGGAGTTA-
GATATATTACAGAGGCCCTCATTAAA Celera SNP ID: hCV25969661 Public SNP
ID: rs10818503 SNP Chromosome Position: 122890591 SNP in Transcript
Sequence SEQ ID NO: 2 SNP Position Transcript: 198 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,28|G,12) African American (A,11|G,25) total (A,39|G,37) SNP
Type: Missense Mutation Protein Coding: SEQ ID NO: 18, at position
56,(V,GTT) (I,ATT) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: Missense
Mutation Protein Coding: SEQ ID NO: 18, at position 56,(V,GTT)
(I,ATT) Context (SEQ ID NO: 41):
CTACCTTTTCATTCTGGAGGACAGTGGTGTGAGCAAGTTGAGATTGCAGATGAAAACAATATGCTTTTGGACTA-
TCAAGACCATAAAGGAGCTGATTCAC K
TGCAGGAGTTAGATATATTACAGAGGCCCTCATTAAAAAACTTACTAAACAGGATAATTTGGCTTTGATAAAAT-
CTCTGAACCTTTCACTTTCTAAAGAC Celera SNP ID: hCV30830458 Public SNP
ID: rs10733651 SNP Chromosome Position: 122898015 SNP in Transcript
Sequence SEQ ID NO: 2 SNP Position Transcript: 261 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,50|T,70) SNP Type: Transcription Factor Binding Site
Protein Coding: SEQ ID NO: 18, at position None Gene Number: 3 Gene
Symbol GSN - 2934 Gene Name: gelsolin (amyloidosis, Finnish type)
Transcript Accession: NM_000177 Protein Accession: NP_000168
Chromosome: 9 OMIM NUMBER: 137350 OMIM Information: Amyloidosis,
Finnish type, 105120 (3) Transcript Sequence (SEQ ID NO: 3):
Protein Sequence (SEQ ID NO: 19): SNP Information Context (SEQ ID
NO: 42):
CATGGATGACGATGGCACAGGCCAGAAACAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTG-
CCACATATGGACAGTTCTATGGAGGC Y
ACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGCAGGGTGCC-
CAGTCTACCCAGGATGAGGTCGCTGC Celera SNP ID: hCV15974495 Public SNP
ID: rs2304393 SNP Chromosome Position: 123123435 SNP in Transcript
Sequence SEQ ID NO: 3 SNP Position Transcript: 1475 SNP Source:
Applera
Population(Allele,Count): Caucasian (C,37|T,1) African American
(C,33|T,3) total (C,70|T,4) SNP Type: Silent Rare Codon Protein
Coding: SEQ ID NO: 19, at position 471,(G,GGC) (G,GGT) SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,115|T,5) SNP Type: Silent Rare Codon Protein Coding: SEQ ID NO:
19, at position 471,(G,GGC) (G,GGT) Context (SEQ ID NO: 43):
GTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCAT-
CCTGAAGACAGTGCAGCTGAGGAACG Y
AAATCTGCAGTATGACCTCCACTACTGGCTGGGCAATGAGTGCAGCCAGGATGAGAGCGGGGCGGCCGCCATCT-
TTACCGTGCAGCTGGATGACTACCTG Celera SNP ID: hCV7577193 Public SNP ID:
rs913763 SNP Chromosome Position: 123107610 SNP in Transcript
Sequence SEQ ID NO: 3 SNP Position Transcript: 378 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52) SNP
Type: Transcription Factor Binding Site Protein Coding: SEQ ID NO:
19, at position None Gene Number: 3 Gene Symbol GSN - 2934 Gene
Name: gelsolin (amyloidosis, Finnish type) Transcript Accession:
NM_198252 Protein Accession: NP_937895 Chromosome: 9 OMIM NUMBER:
137350 OMIM Information: Amyloidosis, Finnish type, 105120 (3)
Transcript Sequence (SEQ ID NO: 4): Protein Sequence (SEQ ID NO:
20): SNP Information Context (SEQ ID NO: 44):
CATGGATGACGATGGCACAGGCCAGAAACAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTG-
CCACATATGGACAGTTCTATGGAGGC Y
ACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGCAGGGTGCC-
CAGTCTACCCAGGATGAGGTCGCTGC Celera SNP ID: hCV15974495 Public SNP
ID: rs2304393 SNP Chromosome Position: 123123435 SNP in Transcript
Sequence SEQ ID NO: 4 SNP Position Transcript: 1481 SNP Source:
Applera Population(Allele,Count): Caucasian (C,37|T,1) African
American (C,33|T,3) total (C,70|T,4) SNP Type: Silent Rare Codon
Protein Coding: SEQ ID NO: 20, at position 420,(G,GGC) (G,GGT) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,115|T,5) SNP Type: Silent Rare Codon Protein Coding:
SEQ ID NO: 20, at position 420,(G,GGC) (G,GGT) Context (SEQ ID NO:
45):
TGCAGCCAGGATGAGAGCGGGGCGGCCGCCATCTTTACCGTGCAGCTGGATGACTACCTGAACGGCCGGGCCGT-
GCAGCACCGTGAGGTCCAGGGCTTCG Y
GTCGGCCACCTTCCTAGGCTACTTCAAGTCTGGCCTGAAGTACAAGAAAGGAGGTGTGGCATCAGGATTCAAGC-
ACGTGGTACCCAACGAGGTGGTGGTG Celera SNP ID: hCV11840647 Public SNP
ID: rs10985194 SNP Chromosome Position: 123067533 SNP in Transcript
Sequence SEQ ID NO: 4 SNP Position Transcript: 525 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (C,68|T,52) SNP Type:
Transcription Factor Binding Site Protein Coding: SEQ ID NO: 20, at
position None Context (SEQ ID NO: 46):
CGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCTGG-
GCCCCAAGCCGGCTCTGCCTGCAGGT W
CCGAGGACACCGCCAAGGAGGATGCGGCCAACCGCAAGCTGGCCAAGCTCTACAAGGTCTCCAATGGTGCAGGG-
ACCATGTCCGTCTCCCTCGTGGCTGA Celera SNP ID: hCV28010799 Public SNP
ID: rs4240466 SNP Chromosome Position: 123079555 SNP in Transcript
Sequence SEQ ID NO: 4 SNP Position Transcript: 917 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,66|T,52) SNP
Type: Transcription Factor Binding Site Protein Coding: SEQ ID NO:
20, at position None Context (SEQ ID NO: 47):
AGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGCAGGGAAGGAGCCTGGCCTGCAGATCTGGCGTGTGGAGAA-
GTTCGATCTGGTGCCCGTGCCCACCA M
CCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAACGGAAATCTGC-
AGTATGACCTCCACTACTGGCTGGGC Celera SNP ID: hCV30830609 Public SNP
ID: rs4837826 SNP Chromosome Position: 123063950 SNP in Transcript
Sequence SEQ ID NO: 4 SNP Position Transcript: 318 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|A,52) SNP
Type: TFBS synonymous Protein Coding: SEQ ID NO: 20, at position
None Gene Number: 4 Gene Symbol LOC392387 - 392387 Gene Name:
similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine
hydrolase ) (AdoHcyase) Transcript Accession: hCT19715 Protein
Accession: hCP43992 Chromosome: 9 OMIM NUMBER: OMIM Information:
Transcript Sequence (SEQ ID NO: 5): Protein Sequence (SEQ ID NO:
21): SNP Information Context (SEQ ID NO: 48):
CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTA-
TGGCTGCCAGGAGTCCCTTATAGATG R
CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGG-
CTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Transcript
Sequence SEQ ID NO: 5 SNP Position Transcript: 609 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: UTR3
Context (SEQ ID NO: 49):
TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGACACCAAGTGGACCAAGACGTGATGATTGCCAGCAA-
GGTAGCAGTGGTAGCAGGCTATGGTG R
TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCGTAATCATCACCGAGACTGACCCCATCA-
GTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Transcript
Sequence SEQ ID NO: 5 SNP Position Transcript: 671 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: UTR3
Context (SEQ ID NO: 50):
GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCC-
AGGCCTTGCAGGGTTTTGGGGCCTGC R
TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGAC-
GAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246 Public SNP
ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Transcript
Sequence SEQ ID NO: 5 SNP Position Transcript: 718 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
UTR3 Gene Number: 4 Gene Symbol LOC392387 - 392387 Gene Name:
similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine
hydrolase ) (AdoHcyase) Transcript Accession: hCT2316704 Protein
Accession: hCP1796196 Chromosome: 9 OMIM NUMBER: OMIM Information:
Transcript Sequence (SEQ ID NO: 6): Protein Sequence (SEQ ID NO:
22): SNP Information Context (SEQ ID NO: 51):
CAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTAT-
GGCTGCCAGGAGTCCCTTATAGATGA R
ACCAAGTGGACCGTGATGGTGCAGATTGCGCTGTGGACCCACCCAGACAAGTACCCCATTGGGGTTCACTTCCT-
GCCCAAGAAGCTGGATGAGGCAGTGG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Transcript
Sequence SEQ ID NO: 6 SNP Position Transcript: 382 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: Missense
Mutation Protein Coding: SEQ ID NO: 22, at position 22,(D,GAC)
(G,GGC) Context (SEQ ID NO: 52):
CAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTAT-
GGCTGCCAGGAGTCCCTTATAGATGA R
ACCAAGTGGACCGTGATGGTGCAGATTGCGCTGTGGACCCACCCAGACAAGTACCCCATTGGGGTTCACTTCCT-
GCCCAAGAAGCTGGATGAGGCAGTGG Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Transcript
Sequence SEQ ID NO: 6 SNP Position Transcript: 382 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: TFBS
synonymous Protein Coding: SEQ ID NO: 22, at position None Gene
Number: 4 Gene Symbol LOC392387 - 392387 Gene Name: similar to
Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase )
(AdoHcyase) Transcript Accession: hCT2316705 Protein Accession:
hCP1796197 Chromosome: 9 OMIM NUMBER: OMIM Information: Transcript
Sequence (SEQ ID NO: 7): Protein Sequence (SEQ ID NO: 23): SNP
Information Context (SEQ ID NO: 53):
ACCCGTGGTGCATTGAACAGACACTGTACTTCAAGGACGGGCCCCTCAACATGATTCTGGATGATGGGGGTGAC-
CTTACCAACCTCATCCACACCAAATG R
CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGG-
CTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Transcript
Sequence SEQ ID NO: 7 SNP Position Transcript: 309 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: UTR5
Context (SEQ ID NO: 54):
ATGGGGGTGACCTTACCAACCTCATCCACACCAAATGACACCAAGTGGACCAAGACGTGATGATTGCCAGCAAG-
GTAGCAGTGGTAGCAGGCTATGGTGA R
GTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCGTAATCATCACCGAGACTGACCCCATCAG-
TGCACTGCAGGCTGCCATGGAAGGCT Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Transcript
Sequence SEQ ID NO: 7 SNP Position Transcript: 372
Related Interrogated SNP: hCV1917481 (Power=.8) Related
Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; ABI_Val Population(Allele,Count): Caucasian (G,41|A,79) SNP
Type: Missense Mutation Protein Coding: SEQ ID NO: 23, at position
14,(D,GAT) (G,GGT) Context (SEQ ID NO: 55):
GACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCCA-
GGCCTTGCAGGGTTTTGGGGCCTGCG R
AATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACG-
AGGCCTGTCAGGAGGGCAACATCTTT Celera SNP ID: hCV26144246 Public SNP
ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Transcript
Sequence SEQ ID NO: 7 SNP Position Transcript: 419 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
Missense Mutation Protein Coding: SEQ ID NO: 23, at position
30,(V,GTA) (I,ATA) Gene Number: 5 Gene Symbol MEGF9 - 1955 Gene
Name: multiple EGF-like-domains 9 Transcript Accession:
NM_001080497 Protein Accession: NP_001073966 Chromosome: 9 OMIM
NUMBER: 604268 OMIM Information: Transcript Sequence (SEQ ID NO:
8): Protein Sequence (SEQ ID NO: 24): SNP Information Context (SEQ
ID NO: 56):
CGGCCCCTCGCCGACCACCCCTCCGGCGGCGGAACGCACTTCGACCACCTCTCAGGCGCCGACCAGACCCGCGC-
CGACCACCCTTTCGACGACCACTGGC S
CGGCGCCGACCACCCCTGTAGCGACCACCGTACCGGCGCCCACGACTCCCCGGACCCCGACCCCCGATCTCCCC-
AGCAGCAGCAACAGCAGCGTCCTCCC Celera SNP ID: hCV3121984 Public SNP ID:
rs991121 SNP Chromosome Position: 122410166 SNP in Transcript
Sequence SEQ ID NO: 8 SNP Position Transcript: 436 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: Applera
Population(Allele,Count): Gaucasian (G,15|C,23) African American
(G,26|C,12) total (G,41|C,35) SNP Type: Transcription Factor
Binding Site Protein Coding: SEQ ID NO: 24 SNP Source: dbSNP;
Celera; HapMap; HGBASE Population(Allele,Count): Gaucasian
(C,43|G,75) SNP Type: Transcription Factor Binding Site Protein
Coding: SEQ ID NO: 24 Context (SEQ ID NO: 57):
TCCTACACTTTTTAGGATGCTTGGTGAACATAACACCACTTATAATGAACATCCCTGGTTCCTATATTTTGGGC-
TATGTGGGTAGGAATTGTTACTTGTT R
CTGCAGCAGCAGCCCTAGAAAGTAAGCCCAGGGCTTCAGATCTAAGTTAGTCCAAAAGCTAAATGATTTAAAGT-
CAAGTTGTAATGCTAGGCATAAGCAC Celera SNP ID: hCV3121987 Public SNP ID:
rs10616 SNP Chromosome Position: 122403354 SNP in Transcript
Sequence SEQ ID NO: 8 SNP Position Transcript: 5855 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Gaucasian (A,41|G,79) SNP Type:
UTR3 Gene Number: 6 Gene Symbol PHF19 - 26147 Gene Name: PHD finger
protein 19 Transcript Accession: NM_001009936 Protein Accession:
NP_001009936 Chromosome: 9 OMIM NUMBER: OMIM Information:
Transcript Sequence (SEQ ID NO: 9): Protein Sequence (SEQ ID NO:
25): SNP Information Context (SEQ ID NO: 58):
CATCTTCGCACTGGCTGTGCGGGTGAGCCTTCCATCCTCCCCAGTCCCTGCCTCTCCTGCCTCCTCCAGTGGGG-
CAGACCAGAGACTCCCATCACAGAGT Y
TGAGCTCCAAGCAGAAGGGCCACACCTGGGCTTTGGAGACAGATAGCGCCTCTGCCACTGTCCTTGGCCAGGAT-
TTGTAGACTCCCTGAGCCTCAGTTTC Celera SNP ID: hCV8780517 Public SNP ID:
rs1056567 SNP Chromosome Position: 122671866 SNP in Transcript
Sequence SEQ ID NO: 9 SNP Position Transcript: 797 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,43|C,77) SNP
Type: ESE Protein Coding: SEQ ID NO: 25 Gene Number: 6 Gene Symbol
PHF19 - 26147 Gene Name: PHD finger protein 19 Transcript
Accession: NM_015651 Protein Accession: NP_056466 Chromosome: 9
OMIM NUMBER: OMIM Information: Transcript Sequence (SEQ ID NO: 10):
Protein Sequence (SEQ ID NO: 26): SNP Information Context (SEQ ID
NO: 59):
GATCCAATTTGTAGCTTCCTGCCTGGCTTCAGAGAGCCCAGCAACCTTCTAGGCCTGCTTTCCAGACTTCTGAG-
ATAGCCTGGGATGAGCAATCCTGTTA Y
AGTACATCTGGACCTTCCCTACCTGGGCTCTGGGGAGGCTGTGGGCCTGGAGAGGGAAAAGGAGGGAGGGGGTG-
TCTGCACCACCTGGGAAGATAGCACA Celera SNP ID: hCV8780962 Public SNP ID:
rs1837 SNP Chromosome Position: 122658050 SNP in Transcript
Sequence SEQ ID NO: 10 SNP Position Transcript: 3989 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,39|C,81) SNP Type: UTR3 Context (SEQ ID NO: 60):
AAGCACAGGGGACTCACCCTCTTTCATATCCCTTGCCCTGCCCTGAAATGGACAATCACTTTTTGGGATAGGTT-
GAAATTTTTAAAGAGCCTGCATCATT Y
GGTTCCCTCAAAGGGAAGCCCTTGCCAGTGGGGGTTTGAAAGAGAATTTTTGGAACCAACATTCAAATTCTGCC-
TCATCTGGAGGGAAACCAAAATTGGG Celera SNP ID: hCV8780961 Public SNP ID:
rs914842 SNP Chromosome Position: 122658792 SNP in Transcript
Sequence SEQ ID NO: 10 SNP Position Transcript: 3247 Related
Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) Related Interrogated SNP: hCV25612709
(Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,30|C,90) SNP Type: UTR3 Gene Number: 7 Gene Symbol
PSMD5 - 5711 Gene Name: proteasome (prosome, macropain) 26S
subunit, non-ATPase, 5 Transcript Accession: NM_005047 Protein
Accession: NP_005038 Chromosome: 9 OMIM NUMBER: 604452 OMIM
Information: Transcript Sequence (SEQ ID NO: 11): Protein Sequence
(SEQ ID NO: 27): SNP Information Context (SEQ ID NO: 61):
TTTGGATGCAATTTCATCTCTTCTGTACTTACCACCTGAGCAGCAGACTGATGACCTTCTGAGGATGACAGAAT-
CCTGGTTTTCTTCTTTATCTCGGGAT Y
CACTGGAGCTCTTCCGTGGCATTAGTAGTCAGCCCTTCCCTGAACTACACTGTGCTGCCTTAAAAGTGTTTACG-
GCCATTGCAAACCAACCCTGGGCTCA Celera SNP ID: hCV1452652 Public SNP ID:
rs1060817 SNP Chromosome Position: 122623013 SNP in Transcript
Sequence SEQ ID NO: 11 SNP Position Transcript: 1202 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (T,16|C,16)
Tfrican Tmerican (T,22|C,12) total (T,38|C,28) SNP Type: Silent
Mutation Protein Coding: SEQ ID NO: 27, at position 394,(D,GAT)
(D,GAC) SNP Source: Applera Population(Allele,Count): Caucasian
(T,6|C,16) Tfrican Tmerican (T,18|C,12) total (T,24|C,28) SNP Type:
Silent Mutation Protein Coding: SEQ ID NO: 27, at position
394,(D,GAT) (D,GAC) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,57|C,63) SNP Type:
Silent Mutation Protein Coding: SEQ ID NO: 27, at position
394,(D,GAT) (D,GAC) Gene Number: 8 Gene Symbol RAB14 - 51552 Gene
Name: RAB14, member RAS oncogene family Transcript Accession:
hCT1951175 Protein Accession: hCP1752444 Chromosome: 9 OMIM NUMBER:
OMIM Information: Transcript Sequence (SEQ ID NO: 12): Protein
Sequence (SEQ ID NO: 28): SNP Information Context (SEQ ID NO: 62):
ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCT-
TACTGCTTGTGCAGTCACCTGCCTCT Y
GAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTT-
AAATAGATCTTCCACTACAATGTTGA Celera SNP ID: hCV11720348 Public SNP
ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Transcript
Sequence SEQ ID NO: 12 SNP Position Transcript: 3372 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,45|C,73) SNP
Type: UTR3 Context (SEQ ID NO: 63):
AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTC-
ATTGCCCTTGGACCTGTGAGGAGGCC Y
TCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTA-
TGGATAATAACGTGTTTGATGGAGTA Celera SNP ID: hCV11720350 Public SNP
ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Transcript
Sequence SEQ ID NO: 12 SNP Position Transcript: 3409 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:
UTR3 Context (SEQ ID NO: 64):
AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTT-
TTAAGTGTGATTTTAAAAAAATGAGT S
GTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGA-
GAGGGTTCATGTGGCATTTTAGAGAA Celera SNP ID: hCV11720351 Public SNP
ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Transcript
Sequence SEQ ID NO: 12
SNP Position Transcript: 3698 Related Interrogated SNP: hCV11720413
(Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related
Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP:
hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582
(Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related
Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP:
hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related
Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP:
hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653
(Power=.51) Related Interrogated SNP: hCV7577317 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Gaucasian (G,65|C,55) SNP Type: UTR3 Gene Number: 8 Gene Symbol
RAB14 - 51552 Gene Name: RAB14, member RAS oncogene family
Transcript Accession: hCT21503 Protein Accession: hCP44842
Chromosome: 9 OMIM NUMBER: OMIM Information: Transcript Sequence
(SEQ ID NO: 13): Protein Sequence (SEQ ID NO: 29): SNP Information
Context (SEQ ID NO: 65):
ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCT-
TACTGCTTGTGCAGTCACCTGCCTCT Y
GAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTT-
AAATAGATCTTCCACTACAATGTTGA Celera SNP ID: hCV11720348 Public SNP
ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Transcript
Sequence SEQ ID NO: 13 SNP Position Transcript: 3637 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,45|C,73) SNP
Type: UTR3 Context (SEQ ID NO: 66):
AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTC-
ATTGCCCTTGGACCTGTGAGGAGGCC Y
TCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTA-
TGGATAATAACGTGTTTGATGGAGTA Celera SNP ID: hCV11720350 Public SNP
ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Transcript
Sequence SEQ ID NO: 13 SNP Position Transcript: 3674 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:
UTR3 Context (SEQ ID NO: 67):
AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTT-
TTAAGTGTGATTTTAAAAAAATGAGT S
GTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGA-
GAGGGTTCATGTGGCATTTTAGAGAA Celera SNP ID: hCV11720351 Public SNP
ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Transcript
Sequence SEQ ID NO: 13 SNP Position Transcript: 3963 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP:
hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Gaucasian (G,65|C,55) SNP Type: UTR3 Gene
Number: 8 Gene Symbol RAB14 - 51552 Gene Name: RAB14, member RAS
oncogene family Transcript Accession: hCT2317300 Protein Accession:
hCP1796163 Chromosome: 9 OMIM NUMBER: OMIM Information: Transcript
Sequence (SEQ ID NO: 14): Protein Sequence (SEQ ID NO: 30): SNP
Information Context (SEQ ID NO: 68):
ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCT-
TACTGCTTGTGCAGTCACCTGCCTCT Y
GAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTT-
AAATAGATCTTCCACTACAATGTTGA Celera SNP ID: hCV11720348 Public SNP
ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Transcript
Sequence SEQ ID NO: 14 SNP Position Transcript: 3459 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,45|C,73) SNP
Type: UTR3 Context (SEQ ID NO: 69):
AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTC-
ATTGCCCTTGGACCTGTGAGGAGGCC Y
TCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTA-
TGGATAATAACGTGTTTGATGGAGTA Celera SNP ID: hCV11720350 Public SNP
ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Transcript
Sequence SEQ ID NO: 14 SNP Position Transcript: 3496 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:
UTR3 Context (SEQ ID NO: 70):
AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTT-
TTAAGTGTGATTTTAAAAAAATGAGT S
GTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGA-
GAGGGTTCATGTGGCATTTTAGAGAA Celera SNP ID: hCV11720351 Public SNP
ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Transcript
Sequence SEQ ID NO: 14 SNP Position Transcript: 3785 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP:
hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Gaucasian (G,65|C,55) SNP Type: UTR3 Gene
Number: 9 Gene Symbol TRAF1 - 7185 Gene Name: TNF
receptor-associated factor 1 Transcript Accession: NM_005658
Protein Accession: NP_005649 Chromosome: 9 OMIM NUMBER: 601711 OMIM
Information: Transcript Sequence (SEQ ID NO: 15): Protein Sequence
(SEQ ID NO: 31): SNP Information Context (SEQ ID NO: 71):
GCCCATGGCCCTGGAGCAGAACCTGTCAGACCTGCAGCTGCAGGCAGCCGTGGAAGTGGCGGGGGACCTGGAGG-
TCGATTGCTACCGGGCACCCTGCTCC Y
AGAGCCAGGAGGAGCTGGCCCTGCAGCACTTCATGAAGGAGAAGCTTCTGGCTGAGCTGGAGGGGAAGCTGCGT-
GTGTTTGAGAACATTGTTGCTGTCCT Celera SNP ID: hCV25763321 Public SNP
ID: rs3747841 SNP Chromosome Position: 122715622 SNP in Transcript
Sequence SEQ ID NO: 15 SNP Position Transcript: 1083 SNP Source:
Applera Population(Allele,Count): Caucasian (T,1|C,37) Tfrican
Tmerican (T,3|C,35) total (T,4|C,72) SNP Type: ESE Protein Coding:
SEQ ID NO: 31, at position None SNP Source: dbSNP; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (C,114|T,2) SNP Type:
ESE Protein Coding: SEQ ID NO: 31, at position None Context (SEQ ID
NO: 72):
CCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGGAAGCCCACAGTC-
TGTGCAAGAGCATGAGGTCACCTCCC R
GACCTCCCACCTAAACCTGCTGTTGGGGTTCATGAAACAGTGGAAGGCCCGGCTGGGCTGTGGCCTGGAGTCTG-
GGCCCATGGCCCTGGAGCAGAACCTG Celera SNP ID: hCV2783590 Public SNP ID:
rs6478486 SNP Chromosome Position: 122695150 SNP in Transcript
Sequence SEQ ID NO: 15 SNP Position Transcript: 907 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Gaucasian
(A,52|G,68) SNP Type: Transcription Factor Binding Site Protein
Coding: SEQ ID NO: 31, at position None Context (SEQ ID NO: 73):
GCCAGGACTCCACAAGGCTGGTCCCCTGCCCTGGAGCAACTTAAACAGGCCCTCTGGCCAGCCTGGAACCCTGA-
GATGGCCTCCAGCTCAGGCAGCAGTC W
TCGCCCGGCCCCTGATGAGAATGAGTTTCCCTTTGGGTGCCCTCCCACCGTCTGCCAGGACCCAAAGGAGCCCA-
GGGCTCTCTGCTGTGCAGGCTGTCTC Celera SNP ID: hCV2783608 Public SNP ID:
rs4836834 SNP Chromosome Position: 122705722 SNP in Transcript
Sequence SEQ ID NO: 15 SNP Position Transcript: 598 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,63|T,57) SNP Type: Transcription Factor Binding Site Protein
Coding: SEQ ID NO: 31, at position None Context (SEQ ID NO: 74):
GCGGCTGTACCTGAATGGAGATGGCACTGGAAAGAGAACCCATCTGTCGCTCTTCATCGTGATCATGAGAGGGG-
AGTATGATGCGCTGCTGCCGTGGCCC Y
TCCGGAACAAGGTCACCTTCATGCTGCTGGACCAGAACAACCGTGAGCACGCCATTGACGCCTTCCGGCCTGAC-
CTAAGCTCAGCGTCCTTCCAGAGGCC
Celera SNP ID: hCV16175379 Public SNP ID: rs2239657 SNP Chromosome
Position: 122711341 SNP in Transcript Sequence SEQ ID NO: 15 SNP
Position Transcript: 1593 SNP Source: dbSNP; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (C,50|T,70) SNP Type:
Silent Mutation Protein Coding: SEQ ID NO: 31, at position
340,(P,CCC) (P,CCT) Context (SEQ ID NO: 75):
TGCACTCTGGACTCAAGAAACTCTTAGTTCAGTGGAGGAAATGAGCAGATAAGTAGATCATTATGATTGAGAGT-
AGGAGAAGCTTAGAGAAAGCACAGAA Y
CCCAGATCCAGCTGGTGAAGGAGGGAAGGCTTCAGGCCTTTAAGCTCAGCCTGAGAATATTGTGAAATGCAGAG-
GATGGGGAAAAGGGAAGAGTACCGAC Celera SNP ID: hCV2783607 Public SNP ID:
rs9886724 SNP Chromosome Position: 122704840 SNP in Transcript
Sequence SEQ ID NO: 15 SNP Position Transcript: 4102 Related
Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP:
hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795
(Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related
Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP:
hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783625
(Power=.9) Related Interrogated SNP: hCV2783638 (Power=.9) Related
Interrogated SNP: hCV2783655 (Power=.9) Related Interrogated SNP:
hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783633
(Power=.9) Related Interrogated SNP: hCV2783604 (Power=.9) Related
Interrogated SNP: hCV2783620 (Power=.8) Related Interrogated SNP:
hCV2783653 (Power=.8) Related Interrogated SNP: hCV11266229
(Power=.7) Related Interrogated SNP: hCV2783590 (Power=.7) Related
Interrogated SNP: hCV11720414 (Power=.7) Related Interrogated SNP:
hCV2783597 (Power=.7) Related Interrogated SNP: hCV7577344
(Power=.7) Related Interrogated SNP: hCV30830725 (Power=.7) Related
Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP:
hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783634
(Power=.7) Related Interrogated SNP: hCV2783621 (Power=.7) Related
Interrogated SNP: hCV2783618 (Power=.7) Related Interrogated SNP:
hCV16175379 (Power=.6) Related Interrogated SNP: hCV1761888
(Power=.6) Related Interrogated SNP: hCV2783641 (Power=.6) Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783586 (Power=.6) Related Interrogated SNP: hCV2783589
(Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related
Interrogated SNP: hCV15849116 (Power=.51) SNP Source: dbSNP; Celera
Population(Allele,Count): Caucasian (T,60|C,54) SNP Type: UTR3
Context (SEQ ID NO: 76):
TTCTCCAGGGTCAGAAACAGGACCGGGTGGAAGGGATGGGGTGCCAGTTTGAATGCAGTCTGTCCAGGCTCGTC-
ATTGGAGGTGAACAAGCAAACCCAGA S
GGCTCCACTAGGACTTCAAATTGGGGGTTGGATTTGAAGACTTTTAAGTTTCCTTCCAGCCCAGAAAGTCTCTC-
ATTCTAGGCCTCCTGGCCCAGGTGAG Celera SNP ID: hCV2783609 Public SNP ID:
rs2241003 SNP Chromosome Position: 122706598 SNP in Transcript
Sequence SEQ ID NO: 15 SNP Position Transcript: 2344 Related
Interrogated SNP: hCV2783620 (Power=.9) Related Interrogated SNP:
hCV11266229 (Power=.8) Related Interrogated SNP: hCV11720413
(Power=.8) Related Interrogated SNP: hCV11720414 (Power=.8) Related
Interrogated SNP: hCV16175379 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV1761894
(Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related
Interrogated SNP: hCV2783586 (Power=.8) Related Interrogated SNP:
hCV2783597 (Power=.8) Related Interrogated SNP: hCV2783641
(Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related
Interrogated SNP: hCV2783634 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783625
(Power=.8) Related Interrogated SNP: hCV2783621 (Power=.8) Related
Interrogated SNP: hCV2783618 (Power=.8) Related Interrogated SNP:
hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783604
(Power=.8) Related Interrogated SNP: hCV7577344 (Power=.8) Related
Interrogated SNP: hCV30830725 (Power=.8) Related Interrogated SNP:
hCV29006006 (Power=.8) Related Interrogated SNP: hCV29005978
(Power=.8) Related Interrogated SNP: hCV2783590 (Power=.8) Related
Interrogated SNP: hCV25751916 (Power=.8) Related Interrogated SNP:
hCV15849116 (Power=.7) Related Interrogated SNP: hCV1761888
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783589
(Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera;
HGBASE Population(Allele,Count): Gaucasian (C,51|G,65) SNP Type:
UTR3 Gene Number: 10 Gene Symbol hCG2042142 Gene Name: Transcript
Accession: hCT2347373 Protein Accession: hCP1911230 Chromosome: 9
OMIM NUMBER: OMIM Information: Transcript Sequence (SEQ ID NO: 16):
Protein Sequence (SEQ ID NO: 32): SNP Information Context (SEQ ID
NO: 77):
CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTA-
AAGTAAACCCTACCTAAAATGTACTG K
GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCT-
TCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528 Public SNP
ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Transcript
Sequence SEQ ID NO: 16 SNP Position Transcript: 1744 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP
Type: UTR5
TABLE-US-00017 Gene Number: 1 Gene Symbol: C5 - 727 Gene Name:
complement component 5 Chromosome: 9 OMIM NUMBER: 120900 OMIM
Information: C5 deficiency (1) Genomic Sequence (SEQ ID NO: 78):
SNP Information Context (SEQ ID NO: 92):
TGTTCTGCCTATGCTTAGGTAAGACATTAGGAAGAACTTCCCTGAGTACTGTGATGACTTAATAGTAGGCTCTG-
ATGCTTGGGAAAGTCATTAGTACAAA S
GACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGA-
ACCATAGTGGATAGATCTCCTTTCTC Celera SNP ID: hCV16234795 Public SNP
ID: rs2416804 SNP Chromosome Position: 122716217 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 5617 SNP Source:
Applera Population(Allele,Count): Caucasian (C,20|G,18) African
American (C,12|G,26) total (C,32|G,44) SNP Type: INTRON SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,62|C,58) SNP Type: INTRON Context (SEQ ID NO: 93):
CTATAATATTCAACAACCCTCTCGATGGTGTTTCCCTGCCTCTGTACAGCATGAACTATCAGGTTGTTCAGGAA-
CTGTGAAAATGTAGTTTTACAATGCT S
AAGGAATCATTAGCTTTCAATTAGCTGAGATAGCATTTCTACTTCTGAGAAAGAACAGTTTACCAAACAGTGTC-
CCCCAGATTAACCTCAGGTTATGAAC Celera SNP ID: hCV22272061 Public SNP
ID: rs16910233 SNP Chromosome Position: 122763432 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 52832 SNP Source:
Applera Population(Allele,Count): Caucasian (C,38|G,0) African
American (C,26|G,4) total (C,64|G,4) SNP Type: INTRON SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,120|G,-) SNP
Type: INTRON Context (SEQ ID NO: 94):
AAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATT-
GTTTGTGCATTCAGTGTTACTGGGAC Y
CCTCCTACCAACTGGTCAAGCGAATCTTTAACCTGCACCTGTTTGTCAAAACAATCCAAATCTATTTCAACAGC-
TCATCACTTATTTTAAAGCACAATTC Celera SNP ID: hCV25473087 Public SNP
ID: rs10985126 SNP Chromosome Position: 122823755 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 113155 SNP Source:
Applera Population(Allele,Count): Caucasian (C,1|T,33) African
American (C,9|T,25) total (C,10|T,58) SNP Type: ESE;SILENT MUTATION
SNP Source: dbSNP; Applera Population(Allele,Count): Caucasian
(T,87|C,29) SNP Type: ESE;SILENT MUTATION Context (SEQ ID NO: 95):
GGACAGCAACAATGTTCTCAAACACACGCAGCTTCCCCTCCAGCTCAGCCAGAAGCTTCTCCTTCATGAAGTGC-
TGCAGGGCCAGCTCCTCCTGGCTCTC R
GAGCAGGGTGCCCGGTAGCAATCGACCTCCAGGTCCCCCGCCACTTCCACGGCTGCCTGCAGCTGCAGGTCTGA-
CAGGTTCTGCTCCAGGGCCATGGGCC Celera SNP ID: hCV25763321 Public SNP
ID: rs3747841 SNP Chromosome Position: 122715622 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 5022 SNP Source:
Applera Population(Allele,Count): Caucasian (A,1|G,37) African
American (A,3|G,35) total (A,4|G,72) SNP Type: ESE;SILENT
MUTATION;PSEUDOGENE SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (G,114|A,2) SNP Type:
ESE;SILENT MUTATION;PSEUDOGENE Context (SEQ ID NO: 96):
GAAACGCAGAAGCCAGAGGCAGTTGGGAAGTGCTGGACTTTGCAGATGTGGGACTGGGATCCAGTGGTCAGGCA-
TGCCCAAGGTCAGCGGCTCAAAACCA K
GAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTA-
GCTTAGTGTTTGTCAGCTGGCCATCC Celera SNP ID: hCV25766419 Public SNP
ID: rs12377786 SNP Chromosome Position: 122711580 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 980 SNP Source:
Applera Population(Allele,Count): Caucasian (G,0|T,36) African
American (G,4|T,34) total (G,4|T,70) SNP Type: INTRON SNP Source:
Applera Population(Allele,Count): Caucasian (G,0|T,38) African
American (G,5|T,33) total (G,5|T,71) SNP Type: INTRON SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,117|G,1) SNP
Type: INTRON Context (SEQ ID NO: 97):
CAAGGTCAGCGGCTCAAAACCATGAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGG-
AATGGGCTCTTGGGGGTCATCTAGCT Y
AGTGTTTGTCAGCTGGCCATCCAAGTCATACACTGCCGGGCCCCACCCTCAGAGTTTCTCACTCAGTGACCCTG-
GGGTGAGAACTGAGAGTTGGCACTTC Celera SNP ID: hCV2783618 Public SNP ID:
rs2239658 SNP Chromosome Position: 122711658 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 1058 SNP Source:
Applera Population(Allele,Count): Caucasian (C,23|T,13) African
American (C,27|T,11) total (C,50|T,24) SNP Type: INTRON SNP Source:
Applera Population(Allele,Count): Caucasian (C,24|T,14) African
American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,51|C,69) SNP Type: INTRON Context (SEQ ID NO: 98):
GTCATTAGTACAAAGGACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAG-
ACCTGGAGGTCTGGAACCATAGTGGA Y
AGATCTCCTTTCTCACACTCAGATGCTTACCTTGAAGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAG-
CCTCAGCCACCTCGGGGTGAGCCTGG Celera SNP ID: hCV2783621 Public SNP ID:
rs2416805 SNP Chromosome Position: 122716303 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 5703 SNP Source:
Applera Population(Allele,Count): Caucasian (C,24|T,14) African
American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,51|C,69) SNP Type: INTRON Context (SEQ ID NO: 99):
GGCATCCCTGTTTAGGACATAGCTGACACTCAATATATGTTTAAGTAGTGAAGAGATAGATTTATAAAATAAAG-
AGTGGAACAGATGATTTCAATGGTCT Y
AGCCAATTGTAAAATACTACAGAAAGTTCTTCATTTACCTCTACTGGCCTCCCAAGGAAATTCTTGTCTGTCAT-
TTTATAATTATGTAAGGCACCTTTAT Celera SNP ID: hCV2783677 Public SNP ID:
rs2269066 SNP Chromosome Position: 122776839 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 66239 SNP Source:
Applera Population(Allele,Count): Caucasian (C,35|T,1) African
American (C,30|T,6) total (C,65|T,7) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,102|T,18) SNP Type: INTRON Context (SEQ ID NO: 100):
CTGACACTCAATATATGTTTAAGTAGTGAAGAGATAGATTTATAAAATAAAGAGTGGAACAGATGATTTCAATG-
GTCTCAGCCAATTGTAAAATACTACA S
AAAGTTCTTCATTTACCTCTACTGGCCTCCCAAGGAAATTCTTGTCTGTCATTTTATAATTATGTAAGGCACCT-
TTATGCTTGTAAGAAACATCGATGTC Celera SNP ID: hCV2783678 Public SNP ID:
rs2269067 SNP Chromosome Position: 122776861 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 66261 SNP Source:
Applera Population(Allele,Count): Caucasian (C,2|G,32) African
American (C,12|G,24) total (C,14|G,56) SNP Type: TFBS
SYNONYMOUS;INTRON SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (G,91|C,29) SNP Type:
TFBS SYNONYMOUS;INTRON Context (SEQ ID NO: 101):
AGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGATAGTAAATATTTTGGGCTATGAA-
GTCTTTGTTGCAAGTACTCAATTTTA Y
ATAATTTTCATGTGTCCCAAAATATCTTTTTTTGTTTTTTTGAGACAGGGTCTCATTCTGCTACCCAGGCTGGA-
GTGTAGTGGCACGATCATGGTTCACT Celera SNP ID: hCV2359565 Public SNP ID:
rs1014530 SNP Chromosome Position: 122724913 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 14313 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,63|C,57) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 102):
ACCTGTAGGGAAGACTGTTCAGCCAGGAACACCAGAACCCGGCTTGGGGATGGGATGGGAATGGCGGGATGTGG-
AGATTGATCTGCCCCAGATGTGTTTT S
CTGACCACGCCTCACTCAGGTGTGCGTCTGCATCTGAATGTGCTGCCCCCTGCCTGGCCTTCCTTTTCCTTATC-
CACCAGGAATCCAGCTCATATGGCCC Celera SNP ID: hCV2783620 Public SNP ID:
rs7021880 SNP Chromosome Position: 122713711 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 3111 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,68|C,46) SNP Type: INTRON Context (SEQ ID NO: 103):
ACTGAATGTTATAGCGATCCCTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGA-
TGGCTTGGGCCACATGACTTTGCACA Y
TGCTGTTCCCTTTGGCTATCTCCTTTCCACCCTTTAAGCTTCCACCCTTCCATGACCTTCCTTCAAAACAGGAC-
CTGGGCCCTTACTGTGATCCTGGGCA Celera SNP ID: hCV2783622 Public SNP ID:
rs758959 SNP Chromosome Position: 122716520 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 5920 SNP Source:
dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,51|T,69) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 104):
TTGGCTTGTGGTCCCTTCCTCCATCTTCAAAGCCAGCAGTGGAGCATCTCCCCTTCTCTCTGACCCTCATCTCC-
CTCTTCTGAGGACACTTGGGCCTCCT R
GATAATCCAAGGTCACCTCCCCATCTCAGAATCCTTCATTTAATCGTGTCTGCAGAGTCTGTTTTGCCATTGTT-
ATGGGCTCAGCAACCCCCACCCAAAT Celera SNP ID: hCV2783625 Public SNP ID:
rs10118357 SNP Chromosome Position: 122719889 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 9289 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,63|A,55) SNP Type: INTRON Context (SEQ ID NO: 105):
GGGTGCCTATAATTCTACCATGAATTATAGTGCCTTCACTTGGCTTAAGGCAGCAAGTTTCAAACTGTGCTCTG-
CAGGGCCCTAGGAGTCCCCAGAACCT Y
TTAGGGGCTCGGATAGGAGAAAGAAATGGGGCAATTAACAGGTCGGGGCTCCAGGATCCCCCTCCATCAGAATG-
CTTTTACTTTCATCTGATTGAAAAAG Celera SNP ID: hCV2783630 Public SNP ID:
rs2269060 SNP Chromosome Position: 122723390 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 12790 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,63|T,57) SNP Type: INTRON Context (SEQ ID NO: 106):
AGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAG-
TGTAAAGTTCCAAGAACATGCATTTG K
TCCTTACTCTTACTCTCTGAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCA-
GCTCTGGGTGGGACAGGAAATTCCCC Celera SNP ID: hCV2783633 Public SNP ID:
rs7021049 SNP Chromosome Position: 122723803 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 13203 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,63|T,57) SNP Type: INTRON Context (SEQ ID NO: 107):
CCAGGGTTCTAAATTGTAGCTCCTGAAAATGTCTCTCTGGCCTATCACACTTCCAAATGTGTCTCTTATTCCTA-
GAAGCACCGTTTGACAGAGCTCAGGA S
GTGAGCTGATAATGGTCTCTCCCCACCTAAAGGCAAACAGAGGCAGACAGAACCATCTAGATGAGGAGTTTGCT-
AACCTTTTTTATGTAAAGGGGTGGAT Celera SNP ID: hCV2783634 Public SNP ID:
rs1014529 SNP Chromosome Position: 122724764 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 14164 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|G,69) SNP Type: INTRON Context (SEQ ID NO: 108):
CACCATCCACTCTCCTGACAGCTCCAGAAGCCTCAACTATCAGCAGGGTGGTGATCATGTACGTCCACAATCCC-
AGAGCCACAGTTCCTAAATCGCAAAA S
TGCCGAGTATCCCACATTTTTTGGTAGTTTGCAGTGAGCTTCCTGGGCTGCCAAACCTGCCGTGACTGCACTGA-
CCGGAAGCTATTATAGCCCTTACTTG Celera SNP ID: hCV2783635 Public SNP ID:
rs1930780 SNP Chromosome Position: 122726040 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 15440 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|G,69) SNP Type: INTRON Context (SEQ ID NO: 109):
TCTTGTCTCATCTATCAAATGGAGAAGACAATCCCTACACATCTTTCCATCCTGCTTGGCTGCTACAGAGGTTT-
TGCAAACTTTCACAGTGGTTTCAGAT Y
ATGGGTTTTGAGGTCAGACAGAGCTGAGTTGAAATCCTGGGTCCACTGCTTACTAACTGTGGGCCCTGGGACAA-
AGTCCTTAACTTCCCTGAAACTCAGA Celera SNP ID: hCV2783638 Public SNP ID:
rs3761846 SNP Chromosome Position: 122729418 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 18818 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,63|T,57) SNP Type: UTR5;INTRON Context (SEQ ID NO:
110):
TCCTGCAGCCAGCCCTACCTGTTCCCTCCTTCCCCTGGTTTGGGATAAAACAGGCACCCAAGACTTCTCTCCCC-
ATCTGTGGGTCCCTTCTCTCCCCTCC R
GCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGCGCAACCTGCTCTAATAAGAAAA-
GGGAAAAATAGTACTACTTTTGGGTA Celera SNP ID: hCV2783640 Public SNP ID:
rs3761847 SNP Chromosome Position: 122730060 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 19460 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,62|A,58) SNP Type: UTR5;INTRON Context (SEQ ID NO: 111):
GCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCCGGCCTCAATACCACCCTCTCTACCTGC-
TCATTCCCACGGACATCAAAACGTGC S
CAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTACCGTCTTACGTAATTTTACAGACATCA-
TCTCATCTAATTTTCACTCTGTGAAG Celera SNP ID: hCV2783641 Public SNP ID:
rs2416806 SNP Chromosome Position: 122730113 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 19513 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (G,49|C,67) SNP Type: UTR5;INTRON Context (SEQ ID NO:
112):
AATCTCCATCTTGGTTCTTATTACACTTATAATAACTAGCATTTTTAAAAACGTGCCTGTTTACAGGTTTTTTT-
CTTTCTACCACAGAATTATGAATACA Y
GAAATTGTAGGAATATATGAAAATGTGTATAGGAATATATGAAATTAGATGAATTAAAACCATGAAAGTAAAGC-
TGTATCTGATTTCATTGTTGTTTCCC Celera SNP ID: hCV2783647 Public SNP ID:
rs10739580 SNP Chromosome Position: 122735103 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 24503 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,51|T,69) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 113):
CCTTATCTTCCACTTGTCTCATATAAGCAAACTGCTTAAGGGTCTCTGTCTGCACCTCCCTTGAGTCCCACTGC-
TGGGTGTTTGCTTACATTACTTCTCC Y
CTCAGAAATAACTTCATTTCAGTGTATCCAAACCTTAGTCATTCTTCCAGACCCAGCTTAGAGGCCATCTTCTC-
CATGGAGCCTTCTCCACTGCATGCAG Celera SNP ID: hCV2783650 Public SNP ID:
rs10760129 SNP Chromosome Position: 122740004 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 29404 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,63|C,57) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 114):
CTTCCAAAGCAACTAAAAGCTTGGGCTTACCTCAGATAAAGGCACTTAACCATTACCTGAAAGATCAGCTGTGC-
TTCAGGCTTTAAACCCTTAATTGCTC R
GTATTCTCATGTTCACAGGTTGAGGGACTCAGTATTAACGTGCCTTTGTTGCAAGTTCTTGTAAACAAAGACAG-
TAAAATTATGGTTCTGATGTTCTATT Celera SNP ID: hCV2783653 Public SNP ID:
rs10760130 SNP Chromosome Position: 122741811 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 31211 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,63|A,57) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 115):
GCCAGAGTGAGCAGAAAAGCTGACAGGAGCACCTGCTCTTCGGCTTGCTGTTGAAATCCTGAAGGCTGGGTCAG-
GGGCCAATGAGCAAGTGGGAGTGAGG R
CACAAAGTGAGGCTTGGATCTGGTACTGAAGGCTCCTTTGCAGAGGCTGTTTCTGGGTTGCAGCTACTCTGCTT-
AGGACACGGGATCTGGAACATTAAGT Celera SNP ID: hCV2783655 Public SNP ID:
rs10818488 SNP Chromosome Position: 122744908 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 34308 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,63|G,57) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 116):
TCCATAAACCTCCAGGAACACAGAGGCCTCTTCACGTAGTTCTGCTGCTGCCAGGCCCATTCAGCAGCATGCTG-
GCCCTGTATTCCTTTGCTTCCTGCTC S
GCCACTAGAGCAATGGCATAATTTTTAAAAAGTGAAATAACATGAATAACATTTGCTAGGAACATTACAAAAAA-
GGTGAAGTTAAAAAAAAGAATCCCTA Celera SNP ID: hCV2783656 Public SNP ID:
rs4837804 SNP Chromosome Position: 122745125 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 34525 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,51|G,59) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 117):
CAAAAGTTAACAGGATGACCCATCCCAGACCTATAGAATGAGAACCTGCACTTTCACAAGCTCTTAAACAACAC-
TTCTGAAACTTTAACATGCCTATAAT W
TTCCTGGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGAGGCGCA-
ATCTCGGCTCACTGCAAGCTTCACCT Celera SNP ID: hCV2783659 Public SNP ID:
rs7039505 SNP Chromosome Position: 122745766 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 35166 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,42|T,64) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 118):
TTTTGTTTGGCTTGAGGGGACCTCATCTCTTGTTTTTTCTCCTAATTCAATGGATCCTCTATCTCTTTTCTCTA-
ATAACTTCATCTTGGAATGCTCAAAA K
GTCTATCCTTGGTCTTCTTTTTTTCCACTCCTCTGTCTGTATTCACATCCTTAGTGATCTTAACTAGTCTAATG-
GTTTTAGTATGCTGATGATTCTCAGA Celera SNP ID: hCV2783663 Public SNP ID:
rs10760131 SNP Chromosome Position: 122749962 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 39362 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,118|G,2) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 119):
AAAATATAAAATTATTTGGTATTTGGCAACTGTTAACTTTGTGGAAAAGTACAAAATGTGAAAGACTTGGAAAA-
CTTCAAAGATAGTAATTTTGGGATTC Y
CAAAGAACTCACAAGTAGCCAGTTCCCCTACCTGGAATGCATTCCTCCCCATGTTGGCCTCTTGAATTTCATTT-
ATCTTGAAAGTCTCCTTCAATTCTCA Celera SNP ID: hCV2783668 Public SNP ID:
rs12004487 SNP Chromosome Position: 122756502 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 45902 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,106|C,12) SNP Type: INTRON Context (SEQ ID NO: 120):
TCACAAAAAACTATAAAAGTACTATAGAAAATATAGAAAAAACAGTTCTTTAGAAAAACATTTTATTTTAGGTT-
CGGGGCACATGTGCAGGTCTGTTGTA Y
AGGTAAATGGCGTGTCGCAGAGGTTTGGTGTGCAGATTCTTTCATCATTCAGGTAATAAGCATAGTACCTAATA-
GGTCATTTTTTGATCTTTACCCTTCT Celera SNP ID: hCV2783699 Public SNP ID:
rs10760135 SNP Chromosome Position: 122802827 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 92227 SNP Source:
dbSNP; Celera Population(Allele,Count): Caucasian (T,63|C,57) SNP
Type: INTRON Context (SEQ ID NO: 121):
GGAATATTATCCCATTAATGAATCTTGAGATATTTCTTTGTAAGAAGAATTATATCACTGCTTCTCATGAATCT-
CACCAGCATTGACCTATGACCCCCAT S
TCTTCCATTTCAGTTCTTTTAAATTTTACTTATTCACTTTGTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTA-
AATTATTCTTTTTTCCTTTTCCTACT Celera SNP ID: hCV7577317 Public SNP ID:
rs1323472 SNP Chromosome Position: 122866156 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 155556 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,62|G,58) SNP Type: INTRON Context (SEQ ID NO: 122):
TCAGGGACGGAAAGAAGCAAAAATGAAAAGAACAGAGAGCAATACAGAGACGAGAGATTGAACAGAGTTATGCA-
CAAAGACAACACAGAGACAGAGGGAA R
CAAATGAGACACACTGGAGGCAAAAACATAGTGAGAGAAAGGAGTCTATTTTCAAGGAATGATATCTCCATCTT-
AAGGCTTTTTAAGAATTTGCCACCAA Celera SNP ID: hCV7577337 Public SNP ID:
rs993247 SNP Chromosome Position: 122825070 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 114470 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,76|G,44) SNP Type: INTRON Context (SEQ ID NO: 123):
GAATCTTGGGCTCACAATTCCCATCTGCATCCCTCCTTGGCCATCTATCCTTGACTGAGGTGTGTCCACTCCGC-
ACAACTTTCCCTTCCAGATAACATCC W
GCCTGAGGGAAGGGATACAGGAGGGTCTCAGTGCTATTATAATAGCAATTTGACCCCACTGTTAGCCTATTTAG-
GTCTGAAGCATTTACCAAATGCTTTC Celera SNP ID: hCV7577344 Public SNP ID:
rs876445 SNP Chromosome Position: 122716923 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 6323 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP
Type: INTRON Context (SEQ ID NO: 124):
TTAGCTGTTTTTCTAAAAATATAACTTTCATCAAAGCTCCTTACATTCACTACCACCACCCAAATAGGTCCTTG-
CTCCTCGGTCATCAATGCTTATAATT W
GCAAGTGTACTTTAAGTTCCTGAAGAGCAGCAGCTTCAGGAGCCTACTTTGAAAGCGCCACCTGCTGGTATTAA-
CTTAATAGCTTCCCAAAGAAAGCTGG Celera SNP ID: hCV11720394 Public SNP
ID: rs1924081 SNP Chromosome Position: 122862268 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 151668 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,33|T,87) SNP Type: INTRON Context (SEQ ID NO: 125):
AAACTAAATAGATACTAACAAAGAATTACATCTTGCTAATCAAATCACTATTTAAATGCATATATCACTTAAAC-
CTGCTTACCAGTGTTTGAAATGCCAA Y
GCCTTGAATTTCCCAGGTGGTTAGAGAATCAGGTAGGGCAAACTGCAACTGTTTTCTGGAAGTTAAAATGTTGA-
TATTCAAATACAGTGGAATATTGATT Celera SNP ID: hCV11720402 Public SNP
ID: rs17611 SNP Chromosome Position: 122809021 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 98421 SNP Source:
dbSNP; HapMap; ABI_Val Population(Allele,Count): Caucasian
(C,76|T,44) SNP Type: MISSENSE MUTATION Context (SEQ ID NO: 126):
ACCAAGAGGTTTATATTTGTTATTATAAGGACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATG-
ACACAGAAAACAGCTTTACAGACAAG Y
GAGCTGCGGCTTAGGGACATTAGCAGAGCACCAGACCACACAGTGAGACAGTGGCCTCACAGCCTCGAGGCTCT-
CCTCGGTGTGGATGGCTTTCCCCTGT Celera SNP ID: hCV11720413 Public SNP
ID: rs1930782 SNP Chromosome Position: 122727726 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 17126 SNP Source:
dbSNP; HGBASE Population(Allele,Count): Caucasian (C,63|T,57) SNP
Type: UTR3;INTRON Context (SEQ ID NO: 127):
TCCCAGCAAACGGTCTGAGGTGATGAGCAATGCTGTGGAAGGAGAGATATTCGTCTAACAGTTTGTCATTCACC-
AAGAGGTTTATATTTGTTATTATAAG R
ACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAGCGAG-
CTGCGGCTTAGGGACATTAGCAGAGC Celera SNP ID: hCV11720414 Public SNP
ID: rs1930781 SNP Chromosome Position: 122727655 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 17055 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,51|A,69) SNP Type: MICRORNA;UTR3;INTRON Context (SEQ ID NO:
128):
CGAGCTCTGCTCCCAAGATTTTCTGTTTCAGTAGGTCTGGGGTGGGGTCTGGGAATTTGCATTCCTGACAAACT-
CCCAGGCGGCCAGGGACCACACTTTG Y
ATAGCATTGTTCTAAGGCTGACAGTCCTGAGGACCAAAAGAGGAAGGCAAATGGGAAAATTCGAGGCACTGGAG-
GAGGTTGTTTTTTAAGATAGTGGTCT Celera SNP ID: hCV15849116 Public SNP
ID: rs2900180 SNP Chromosome Position: 122746203 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 35603 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(T,45|C,61) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 129):
GTTTATTCCCAGGTATCACACTTCAAGGAACACAGATAAACAGAAGCGCATTTACCCCAAATGCACAGAGACTG-
GGGAAAGACTGCTCAGTGTCTTTCCA W
GGAGGCAGGACTGACTCCAGGGATAGGAGGCTAAGTTGCCTTTTGTGACCTCAAGGGAGACAGACAGACTTCAG-
CTCAGTACAAAGAAAGAGGAGAATGT Celera SNP ID: hCV15875924 Public SNP
ID: rs2269059 SNP Chromosome Position: 122722293 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 11693 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 130):
AATGTGTATTAATTTTGTTAAGAGGAAAGAATAAAACAAGCTAAAAACAACAGTCCTAGAGCATTCAAGCAGGT-
AAGGGCCTTTTGCAAGTGAGGCATAG W
GGCTCACAGAGTTGAGGGTCTGCTTGTGTCTCACAGCCGATCCACCAAGAGCCAAACAGTGAGGCTCAGGGAGT-
TACTCCACGGAGCAGCATATCATATT Celera SNP ID: hCV15875965 Public SNP
ID: rs2191959 SNP Chromosome Position: 122723655 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 13055 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 131):
GCACAATGTTACATATACATAGATTAAAGAGGTACATACATACAAAACAACATTACCTTTCTATTCAAAAGTAT-
ACAGCAAACACATTTGAGTGGGTACA Y
TTGGAGGAAGGGGAATGGGAATGGGGTCCGGGATGAAGGAAAAAATAAAACGAGAGGGGCCTGCCTAAACCAAT-
GAGGATGGTGTGTCAGGAAATGAGGG Celera SNP ID: hCV16077967 Public SNP
ID: rs2159776 SNP Chromosome Position: 122795981 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 85381 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,64|T,56) SNP Type: INTRON Context (SEQ ID NO: 132):
ACATGGCACATGACTGTATCTTCATAAAGGCTTGTATCCAGAATATATAGAGAACTCTTACAACCTAATAAGAG-
ACAAATGACCTAATAAAAAATGGGCA Y
AGCCAGGCTCAGTGGCTCAACACCTGTAAGCTCAACACTTTGGGAGGCTGAGGCAAGAGGATTACTTGAGGCCA-
GGAGTTCAAGACAGCCTGGGCAACAT Celera SNP ID: hCV16124825 Public SNP
ID: rs2109895 SNP Chromosome Position: 122717648 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 7048 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|T,69) SNP Type: INTRON Context (SEQ ID NO: 133):
GGTCACATGGCCAATTCATTGCCAAACCAGGACTAGGACTCAGGCTTCCATGCTCCCCACCTTACCCCCATCAC-
CTTCACACCCATACCTTGTTCCGGAA R
GGCCACGGCAGCAGCGCATCATACTCCCCTCTCATGATCACGATGAAGAGCGACAGATGGGTTCTCTTTCCAGT-
GCCATCTCCATTCAGGTACAGCCGCA Celera SNP ID: hCV16175379 Public SNP
ID: rs2239657 SNP Chromosome Position: 122711341 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 741 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,50|A,70) SNP Type: SILENT MUTATION Context (SEQ ID NO: 134):
TACTTTATTATAAAAATATCTGTCAGACAATAGCATAAAACTGTTTTACTAACATGGTTACAATAACAGGATTC-
AGATAAAATGTAACAATTTGAAATTA Y
GTAAAGCACTTGAGGCACTTTAAAGTGTCTTTCATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCATGCTACC-
TGACTTCAAACTATACTACAAGGCTA Celera SNP ID: hCV16234785 Public SNP
ID: rs2416811 SNP Chromosome Position: 122829455 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 118855 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,76|T,44) SNP Type: TFBS SYNONYMOUS;INTRON Context (SEQ ID NO:
135):
TGTATTACAGAGGTATAGATCTATGATTCTATACTCATTGCAGATGTTCAATAACCATTTATGGAACATTGAAT-
GATTTAGTGTAGTGTGAGGACAGGGT W
ATGAAATGAGATTCTTGTCCTGAAAAATGAATTAAAGTATTATTTAAATAAATAAAATACTTACTATGAAAGTT-
AAGACAGTTTCTCTTTTGGCTGGCTT Celera SNP ID: hCV26144282 Public SNP
ID: rs10818499 SNP Chromosome Position: 122839915 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 129315 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,76|A,44) SNP Type: INTRON Context (SEQ ID NO: 136):
TCTTTAAAATATCTGTTGAATGCATGTCGTGAACGCCGTGCTCATGGGCAAGCCCCAGATGAAGCCTGTGCAAG-
TGCTTCTTGCTTTAACTCCCTTGTAG Y
AATCAGAGGAACATCCTCTGCCTAGGATTCCCAAGCTCCCTGAACCTCACGCGACAGCTGGAGCCCAGGCTGCG-
TCCGCTTTGAGGTTCATCCGAGCCTG Celera SNP ID: hCV29005933 Public SNP
ID: rs7042135 SNP Chromosome Position: 122876474 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 165874 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43) SNP
Type: INTRON Context (SEQ ID NO: 137):
TCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACA-
TGCATTTGGTCCTTACTCTTACTCTC Y
GAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGA-
AATTCCCCTGAACTCTCTGAATGAGA Celera SNP ID: hCV29005976 Public SNP
ID: rs7037195 SNP Chromosome Position: 122723821 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 13221 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,63|C,57) SNP
Type: INTRON Context (SEQ ID NO: 138):
GCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGAGGGACCAGCTCAGAGAAAGGAGAAGGAGGT-
GTGGACACTCGCCTGCCTCTGGTCCA R
CGGTAGGGGGATAGCTGCCCTGCCAGCACTGCTATCACGGTCTGGACATCACAGATCCTGGAAAGGCCTTGCAG-
AGCTGACTTAATATCCTCATTTTACA Celera SNP ID: hCV29005978 Public SNP
ID: rs7021206 SNP Chromosome Position: 122723978 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 13378 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|A,64) SNP
Type: INTRON Context (SEQ ID NO: 139):
AGGTGCAGCAAACCAACATGGCACATGTATACCTATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAAC-
TTAAAGTATAATAATAATAAATAAAG Y
GTCCTTCATGCACTATTACATTTCATCCTCATAAAGCCACATTAATAAAGCTATGTGCTAGATGAAAAAAATTG-
ATCTTGGGGAGATCACAAGACTTAGA Celera SNP ID: hCV30563728 Public SNP
ID: rs10156396 SNP Chromosome Position: 122830953 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 120353 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,32|C,84) SNP
Type: INTRON Context (SEQ ID NO: 140):
GTGAAAGGCCTCTTAGTTTTGTCCAGTGGGGGAGGGTGACAAACTGAACACATTGCTGGATTCCTACGGCGGCA-
GAAGGAGTGAACGATGGGATACAGTG Y
GGTGCAATGAACGTGGAATGGTGAAAGGTCTTTAGAGACTGGGGGAGTGGCCCAGCACAGTGGCTCACACTTGT-
AATCCCAGCACTTTGGGAGGCCAAAA Celera SNP ID: hCV30830832 Public SNP
ID: rs10733648 SNP Chromosome Position: 122740600 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 30000 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,51|C,69) SNP
Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 141):
AATGATGCTGGTACTATCATTATTCGTACTTTGCAAGTGGTAAAAGGCTAACTTGGCTAAGGTTATACGGTTTG-
TAAGTAAATGGGGGAGGCCTTTATAT S
AGTTCTCAGTTGTTATGTGTACAGTTGAGGTCAAGTTTATATGTTATTCACAACCATAGACTGTTCTCTTATTT-
TTACTTTTCATGTGATTTATACAATA Celera SNP ID: hCV30830407 Public SNP
ID: rs10739585 SNP Chromosome Position: 122849360 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 138760 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|C,87) SNP
Type: INTRON
Context (SEQ ID NO: 142):
GACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCAG-
AAGTGGATACTACTGATTTTAGACAA Y
TCACTTTCTGAAAAATAGTGTTTTAAGTTACATACACACTTTAACTTCTAAAGCAAAAGATAACATATAAAATA-
AAAAATCATTTTGCCTACCATAAATA Celera SNP ID: hCV30830340 Public SNP
ID: rs10760134 SNP Chromosome Position: 122798246 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 87646 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,75|C,45) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
143):
TTGTACATTTAAAAATAACTAAAAGAGTATAATTGGATTGTTTATAAAACAAAGGAGAAATACCTCAGGGGATA-
GATACCCCATTTTCCATGATATGATT R
TTACTTATTGCATTCCTGTATCAAAGTATCTCGTGTACCCCGTAAATACTATTTACCCACATAAATTTAAAAAT-
TAAAAAAAATTAAGAGAAAAAAAAGC Celera SNP ID: hCV30830377 Public SNP
ID: rs10818496 SNP Chromosome Position: 122814284 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 103684 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,44|A,68) SNP
Type: INTRON Context (SEQ ID NO: 144):
CCTCTTAAGACTGTTCCCAAGACCATGATCACTCATATTGGCTCAAAATATTCCACTCTGAAATATTTCACAGA-
TTTTTTTTCCTCTGTTAGCAAGTCCT Y
GGGCAAGGTCTAGTGCTGTCCTGGTCTTGGAGGCAGTGGACTTAGGGTGCAACACAGTTTAACACTAGCTGTGG-
CAGCCACAGGAGTATGTATGTCACTC Celera SNP ID: hCV30830417 Public SNP
ID: rs7029523 SNP Chromosome Position: 122857434 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 146834 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP
Type: INTRON Context (SEQ ID NO: 145):
GTGATGGAGCCAAGATTCAAGGCCCAGCAGCCTCGCTCCAGAGACTGCATGGAACCACAGTGCAAGGATGCATG-
GGAATGTGCTTTGCACAAAATAAGTC R
GTACATGTTTACTGAAGTGAATTTCATAGCTGAAAACAGAGAGTGAAGAGCCAGGAAATCCAGTCTGTCATTAA-
TTGGCCATATGACCCTTAGCAAGAAT Celera SNP ID: hCV30830341 Public SNP
ID: rs7040033 SNP Chromosome Position: 122798865 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 88265 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,75|A,45) SNP
Type: INTRON Context (SEQ ID NO: 146):
GTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCATGGTGGAA-
CATAACACAGGACAGAATTCTGCAGG Y
GCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGGAGAAACCC-
AGGTCATGGCTAGCTTCACCACTGGC Celera SNP ID: hCV30830415 Public SNP
ID: rs7855998 SNP Chromosome Position: 122855917 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 145317 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43) SNP
Type: INTRON Context (SEQ ID NO: 147):
GGCCTCTAAGAGAGAATTTCTGCAATCTATGGGCAGGGGCCTCTAAGAGAGAATTTCTGCAATCTACGGGAGGT-
TGCCCAGATGTAGCCTCTGTGGGGCC W
TTCAATTCTACGGGAAAAGGATTCAAAGAGTTAAGTGTTTGAATTAAAAATTGATGGACTCGGCCGGGCGCGAT-
GGCTCACGCCTGTAATCCCAGCACTT Celera SNP ID: hCV30830725 Public SNP
ID: rs7864019 SNP Chromosome Position: 122732689 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 22089 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP
Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 148):
AACCACAGGCTGCACAGCAGGAAAGAGAATCCGTGTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTG-
CACTGGAAGTCAGTGCTGCCCCGTCA Y
GGTGGAACATAACACAGGACAGAATTCTGCAGGCGCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGAC-
AGAGGAGAATTCTGTGCTCCAGAGGG Celera SNP ID: hCV30830414 Public SNP
ID: rs7871371 SNP Chromosome Position: 122855883 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 145283 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,85) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
149):
AGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTAAGTCTTTCTGAGGC-
TAAAATAACTTACTGTGAAAATAATC R
CCTTCTTTACCAGGCTCTGGTAAAGATTAAATAAGAACATATATATGAAAAGGTCTAGCACTCTTAGTACTCAA-
TACATGTTAAGATTTATTAATCTCAC Celera SNP ID: hCV30527383 Public SNP
ID: rs9644911 SNP Chromosome Position: 122848925 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 138325 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,31|A,83) SNP
Type: INTRON Context (SEQ ID NO: 150):
GATAAGTGTCATGAAGAAAATAAACAAGATGCTGAGATAGGGAGTAAAACAAAGCAAGAGATTACATTACATCA-
TGCATCCAGGAATAGCCTTTTTGTAG Y
AGCTTCTACTCTGGGTCATAACAATGAAAAGAAGCCAGGCTTATGAAGAGCCAGGTGAAGCCCATTCCAAGTAG-
AGGGGATGACATGTGCAAAGGCACGG Celera SNP ID: hCV30830395 Public SNP
ID: rs10985132 SNP Chromosome Position: 122835515 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 124915 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP
Type: INTRON Context (SEQ ID NO: 151):
AATAAATAAGTGAATAAGAGTCTTTAAGAAAGGACACTCTTCCTTAGTAGACCTTAATTTTTAAATTTGGGTCT-
CCATTTATTTGCTTTTCTACAATGTA Y
GGGTTAAAATCTCTGACTTTAGAGTTGCAAGAGATCTTTGAGTCATCTATTCTCTTTCCTCACTTGATCAATAA-
TCTCAACAGACCACTCTACTGGAACA Celera SNP ID: hCV15755667 Public SNP
ID: rs2300931 SNP Chromosome Position: 122765966 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 55366 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,1|T,39) African American
(C,5|T,33) total (C,6|T,72) SNP Type: INTRON SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,118|C,2) SNP Type: INTRON Context (SEQ ID NO: 152):
AGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGGAAATAATAA-
TCACATCACTGAATGTTATAGCGATC Y
CTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTT-
TGCACACTGCTGTTCCCTTTGGCTAT Celera SNP ID: hCV16175378 Public SNP
ID: rs2239656 SNP Chromosome Position: 122716439 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 5839 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,37|T,1) African American
(C,35|T,3) total (C,72|T,4) SNP Type: INTRON;PSEUDOGENE SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,118|T,2) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 153):
ATAATTTGTGGCTTACCTGGAGCTGGTTGCCACATTTTTCTTCAATATTTAACCAGACTGAATCAGACACTAAT-
TCTGCTGTCTGTTCTCCTGTGACGAT R
TAATAGACCAGAAGTCGGGATGAAGGAACCATGTTCTGTGTTACTGGAATGTTTATACTTTGATAAGATGCATC-
TGAAAATTTCTCCCTCGTGCCAAAGT Celera SNP ID: hCV2359571 Public SNP ID:
rs25681 SNP Chromosome Position: 122819826 SNP in Genomic Sequence:
SEQ ID NO: 78 SNP Position Genomic: 109226 Related Interrogated
SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV11720413 (Power=.51)
Related Interrogated SNP: hCV16234785 (Power=.51) Related
Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP:
hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51)
Related Interrogated SNP: hCV2783625 (Power=.51) Related
Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP:
hCV2783638 (Power=.51) Related Interrogated SNP: hCV29005933
(Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51)
Related Interrogated SNP: hCV30167357 (Power=.51) Related
Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP:
hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,13|G,19) African American (A,9|G,29) total (A,22|G,48) SNP Type:
SILENT MUTATION SNP Source: Applera Population(Allele,Count):
Caucasian (A,14|G,22) African American (A,9|G,29) total (A,23|G,51)
SNP Type: SILENT MUTATION SNP Source: dbSNP; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (G,76|A,44) SNP Type:
SILENT MUTATION Context (SEQ ID NO: 154):
TTTAACTGATTATACAATCTTTGATGTACAAAATATTTATAGATCAAATATTTGAAGACAAATACCCATGTCTT-
CAAATTAAATATGAAGGATGAAGATC W
GTTAAATGTTATAGAAGGGAAATATGGTTCATTTCAGCCATTTCCCTTCTTCTTTTTCCAATCTTCCCCATCTC-
TCCTCATTATCTTGAAGAGACTCAAC Celera SNP ID: hCV25472748 Public SNP
ID: rs10760138 SNP Chromosome Position: 122837145 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 126545 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (A,8|T,2)
African American (A,20|T,10) total (A,28|T,12) SNP Type: INTRON SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,32|A,86) SNP Type: INTRON Context (SEQ ID NO: 155):
GAAAATGAAGCATTCACAACACGATTTAAAAGAAAACACATACGGCTTTTAAGTCTTCTTCATTTGCACTGATT-
CCAGTAGGCAAGGAGATGTCCATCAC Y
GCATGAGAGGATCCAGATGATGATTCTTCCCTGCTGGGCTTGTAGCTAAAATAAAAAAGAGGTTAGAAAATATA-
ATAAATAAGTGAATAAGAGTCTTTAA Celera SNP ID: hCV25613570 Public SNP
ID: rs12237774 SNP Chromosome Position: 122765792 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 55192 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,39|T,1) African American
(C,34|T,4) total (C,73|T,5) SNP Type: SILENT RARE CODON;SILENT
MUTATION SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (C,118|T,2) SNP Type: SILENT RARE CODON;SILENT MUTATION
Context (SEQ ID NO: 156):
AGCTTTGGAGTAGCTAAGTCAGGAGTAAACTCATATCTGACTTCAAAGACAAATCTCTTAACACTTCACAAGGA-
ATCTCCTCTAATAACACAAGGCAAGG Y
ATTGGCAGAGTAAACAAAGAATGTCAAGAACATGAGAAAATTTTAAGACAACTAGATAACATCAAGCTGCTTCC-
CTTGGGTTCTGTGATCATTAGTGCTA Celera SNP ID: hCV782872
Public SNP ID: rs758958 SNP Chromosome Position: 122864670 SNP in
Genomic Sequence: SEQ ID NO: 78 SNP Position Genomic: 154070
Related Interrogated SNP: hCV1761894 (Power=.51) Related
Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP:
hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,33|C,87) SNP Type: INTRON
Context (SEQ ID NO: 157):
AGATTGGCCCACATTTTACATTGGGTCTCTCTTGGGATTTTGGCTTTTGGAAGTCTCTCTTCTTTTAGCAGGCT-
AGAAAGGCATATGAGTGCAGTTATAC R
GCCAGGCTGCCTCTCCACTTATCTATACATCTGTATATATAAAGATGCTTTAGTTACATCTTTGAAAAAAGGCA-
ATGGCAATAAATAGAAACAACGGACT Celera SNP ID: hCV2783682 Public SNP ID:
rs7861142 SNP Chromosome Position: 122786620 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 76020 Related
Interrogated SNP: hCV2783677 (Power=.51) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (G,99|A,17) SNP Type:
INTRON Context (SEQ ID NO: 158):
AAGTCAGTCAAGGAGTAGGTGTGATAAGGTCTTCTGCTATCTAACTTCTGTATTTCTTTGATTGGTTTAGGACT-
GGATAAAGGAGAAAATGAGGCAATCG Y
TTCTGGGAATAAGTCCCTTGAATATGAGAAACAAAAATAGATACACCTTTTTTCCTTTAACATCTACCTCTCAC-
TGCCATATATATATATATATACACAC Celera SNP ID: hCV2783711 Public SNP ID:
rs10733650 SNP Chromosome Position: 122824319 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 113719 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413
(Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51)
Related Interrogated SNP: hCV16234785 (Power=.51) Related
Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP:
hCV1632190 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) Related
Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633
(Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51)
Related Interrogated SNP: hCV2783655 (Power=.51) Related
Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP:
hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357
(Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,76|T,44) SNP Type: INTRON
Context (SEQ ID NO: 159):
CCATCCCCACCCCAATCCTGGTCCATGGAAACATTGTCTTCCACAAAACCTGTCCCTAGTGCCAAAATGGTTGG-
GGACTGCTGGTCTATGTGATGGTAGC Y
GTCAAGCAAAAATACATAGTGTTTAGAAGCCCCTAAAAGAATATTCTGGAACCACCCTTTATAAAGATTTTGGT-
TCTTATTGACTTATCAGTAGCATAAT Celera SNP ID: hCV2783718 Public SNP ID:
rs10818500 SNP Chromosome Position: 122850704 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 140104 Related
Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV25751916
(Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related
Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783638
(Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related
Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP:
hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783655
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (C,60|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON Context (SEQ ID NO: 160):
GTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACTCTATTTCTCATTTC-
CATTTCTTTTCTCTGTAATATATAAT Y
GAGTATGATTTTATGTATTTGAGATTTTATGTTTTTCAATCTTAAGTTAACTTCACTTTTTTCATTTGTAGAAT-
AGGAGATATTGTCTACTCTGTCCACC Celera SNP ID: hCV7577311 Public SNP ID:
rs1323473 SNP Chromosome Position: 122866297 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 155697 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51)
Related Interrogated SNP: hCV2783597 (Power=.51) SNP Source: dbSNP;
HapMap; HGBASE Population(Allele,Count): Caucasian (T,32|C,84) SNP
Type: INTRON Context (SEQ ID NO: 161):
ATATAGAGGAGAAAGGCACTGGAGGCTTCGGTGCCAGCAGTTTAAAGACTGACTGGAGAGAGGGCGGAGGTGGA-
GCAAGATGGCTGAATAGAACCCCCCC M
GAGATAGTTCTCCACACAGGAACACCAAATAGAACAACTATCCACGCAAGACAGCACCTTCATAAAAGCCATAA-
AATCAGGTGAGTGATCACAGTGCCTA Celera SNP ID: hCV7577328 Public SNP ID:
rs1323476 SNP Chromosome Position: 122855591 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 144991 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,33|A,87) SNP Type: INTRON Context (SEQ ID NO: 162):
AGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCCAACAAGCTTGGAGGGCACCCACCACC-
CCACCTGGCAGAATTATTCCAGGCTT Y
TGCCAACATTGTGACATTTTAAGAGTCTGGTAAAAGCAGGAAGTTTTTAGTAACAATGGAATTAATTTATCAGC-
AATTAAATCCTTTAAAGCATCTGACA Celera SNP ID: hCV7577331 Public SNP ID:
rs1468673 SNP Chromosome Position: 122849711 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 139111 Related
Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783608
(Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related
Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP:
hCV2783582 (Power=.8) Related Interrogated SNP: hCV2783638
(Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP:
hCV2783604 (Power=.7) Related Interrogated SNP: hCV25751916
(Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP
Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,62|T,58) SNP Type: INTRON
Context (SEQ ID NO: 163):
ATAATGGAAGTGAGTCTATACATGCTTTTGAGTGATTTTTAAAAATTATTTTATTTAAAAACTTACAAATATAA-
ACTGGATTACTAAGTGTATATCACAA R
AGTATCTAATTTGAATAGCGAGAACTACATACGCTATTACATAGGAAAAAAAAGTGTTTTAACCCAAAAGGGCA-
TAGTGATCGACTAATTCAAGTGGCCC Celera SNP ID: hCV7577332 Public SNP ID:
rs1468672 SNP Chromosome Position: 122849558 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 138958 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(G,33|A,87) SNP Type: INTRON Context (SEQ ID NO: 164):
GAAGCTGGAGGTTTAGTTTACATTTAGAAAGTTAAGGTGATAGCAGCACTTTCTCTTAGCTACTGCAGCCAAGG-
AAGACTTTTAATCATGTTGACCAGAA M
ATGTAAATGGGGTCAATATTTTTTGCTCAATGAAGAAAAAAGCAGTGATTGAATTCCAGCTGTGGCATCTGCTG-
GCTGAGTGACCGTGGTAAAGTCACTA Celera SNP ID: hCV15755658 Public SNP
ID: rs2300934 SNP Chromosome Position: 122848784 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 138184 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,77|A,43) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
165):
TTGCTTACACTTCCCTTTGACAACTGTTACAAATTTAAAGGTAATTGTGATCATGCTCCTCCCCAGCTGGTAGG-
TGCCCAAGGGTAGGAATGGCATTTAG K
GGGAAAGAAGCTGCCTGGGAAAGGGCGACCTTACTGGAAAGACATTAGGGAATGAGGAAAGATGTTTGAGCGGG-
AACAGAGAGCAGGGACTGGCCACAGA Celera SNP ID: hCV15875956 Public SNP
ID: rs2269065 SNP Chromosome Position: 122768779 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 58179 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,118|T,2) SNP Type: INTRON Context (SEQ ID NO: 166):
AGCATATTCCACCCGCCTTTCTGGAACATTTTGTCCCCAATTTGTAAAAACCAAAGGATAGACTATTCAAGATT-
GCATTTCTCCTTGCTTTCTTTTGTAT R
TTGATAATCTGGAATTAGGCCTCCTGACAATGAAGTCAAATGAATGAATTTTTGATAACAGCTTTTTTCTGTAC-
GGCAGAATTGTGGATAATTAGAACTG Celera SNP ID: hCV15875964 Public SNP
ID: rs2269063 SNP Chromosome Position: 122768371 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 57771 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,118|G,2) SNP Type: INTRON Context (SEQ ID NO: 167):
CTTTGACACTTGACAGTTTTATTATGATGTAGTCAGGTGTGGTTCTCTTTGAGTTTATCATACTTGGAGTTCAT-
TGAGTTTTCTTGAATGTGTGGATTAA Y
GTGTCTCATCACATTTGAAAATTTTGACCATTAGTTCTTCAAATATTTTTTTCTGTCCTTTCCTCTCTCTCTCG-
TCTCCTTCTGGAACTCTCTTCATGCA Celera SNP ID: hCV26144291 Public SNP
ID: rs4570235 SNP Chromosome Position: 122865107 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 154507 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP:
hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,76|C,44) SNP Type:
INTRON Context (SEQ ID NO: 168):
TATATTATTTAATTATTAACACAACAGTAAAATAAACTTTGCCTTATTTTTTCTTATAAAATTGAGCGACTTGA-
GGGCAGGCATTTTTGTCTTATTTAGC Y
TTACATCCCAGTGTCTAGCATAGAATTTTGCATTTTAAAAATGCATTTAATTTACATCTTGAATTAATAAGATT-
GTAGAGGATAAATGATTGATGATGCA Celera SNP ID: hCV29005922 Public SNP
ID: rs7033790 SNP Chromosome Position: 122828213 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 117613 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: INTRON Context (SEQ ID NO: 169):
GATTGTAGAGGATAAATGATTGATGATGCAAACCAAATGAATACGAAAAAGTGAGCAAAAATGACATGAACTCA-
TATCATCTGTGGTATAATGTAAAGAA Y
GCTGAATAAGGGAAAGGGAACCAGCGCCCTAATCTCAGTTCCAGCAATCATTAGCCCTAAACTATGGACAAATA-
ACTTCATGAATATTTCCTTGCAAGAA Celera SNP ID: hCV29005923 Public SNP
ID: rs6478494 SNP Chromosome Position: 122828384 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 117784 Related
Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP:
hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894
(Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51)
Related Interrogated SNP: hCV2783597 (Power=.51) Related
Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP:
hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783621
(Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51)
Related Interrogated SNP: hCV29005978 (Power=.51) Related
Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP:
hCV7577344 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,31|C,85) SNP Type: INTRON
Context (SEQ ID NO: 170):
ATTGTAATTTTAAAATGACCTAAGCTTTTGTGATAGGTTGCTTGCAAAACTAACCCCCAATTCTCTACCTCCCC-
ATGTATCAACGACCTTTGCACAGTTC M
TTGTGTCCACAAAGTGTGGGAGGGGTCTATTTCCTCTGGGCTGACCTTGTAACTTGCTTTGGACAAAAGAATGT-
GTGGAAGTGATGGTGTGCCAGCACCA Celera SNP ID: hCV29005924 Public SNP
ID: rs7031128 SNP Chromosome Position: 122831757 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 121157 Related
Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP:
hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894
(Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51)
Related Interrogated SNP: hCV2783590 (Power=.51) Related
Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP:
hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51)
Related Interrogated SNP: hCV2783634 (Power=.51) Related
Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP:
hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (C,26|A,78) SNP Type: INTRON Context (SEQ ID NO: 171):
TTTAAGGAGCTTATCCAAATGGTGACAACACAATAGCTACCCATTATTAGCTTCCAACATTTATCAGTTATTGT-
GATAATTAACTTGCTAAATTATCTCT Y
ATCTTGACAACCATGCAGAAGGGTGTTATTACCCTCTGGTTACCAATGAGTAAACTAAGGCTCAGAAAAATGTA-
GTGCTTCAGGGAACACATCTAATAAT Celera SNP ID: hCV29005931 Public SNP
ID: rs6478496 SNP Chromosome Position: 122860313 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 149713 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: INTRON Context (SEQ ID NO: 172):
AGAGACTGTGGCAGGCAGGCATACACACGCACATGCTCGCAGGATGGCTGGCTTACCCAAGATTTCAAAAGAAG-
TTGGAAATCTGGATTTTTATGTGAAA Y
GACTTGATTTTTAGAACACCCTATAAGCCAAAAAATAAACCCAAACCAAATGAGCATCCCTATGAACTGTGTCT-
GTGGGCCACTATTTGTGACCTCTGGT Celera SNP ID: hCV29005991 Public SNP
ID: rs7863127 SNP Chromosome Position: 122737851 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 27251 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,118|T,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 173):
TCTGAACCGCTGCACAAACCACCACCCAGATGCCTGCACTCTGAATTAAAATTGCCAGTTACTTTGCATCCTTC-
TCTAAACTAAGCTTTATGAATTTAGA S
ACTGTGTTTCATTTGCTGGTGCATCCCATCACCTGGCACTATGCCCAGCAGAGCACAGAAGGTGCTCAATACGT-
ACTGGTGGGATTGTACCCACAGGCTC Celera SNP ID: hCV29005993 Public SNP
ID: rs6478491 SNP Chromosome Position: 122738311 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 27711 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,118|C,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 174):
ATAGAATGACTAAATGATAAACCTATCAAAAATAGTAACTACAATTATTTTTTAAGAGACAGACCATGTAAAAA-
GATACAAATAGATAAAACAAAAAGTC M
AAATGCAGGAAAAAGTGTAGATGTTTGTTTGGCTTTCTCTGCTTGTTTTTAAAAACTTTTCTTTCTGATAATAG-
TTAAGTTGTTATAAGTCTAAAATAAT Celera SNP ID: hCV29734592 Public SNP
ID: rs10435889 SNP Chromosome Position: 122859566 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 148966 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV29005933
(Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51)
Related Interrogated SNP: hCV30167357 (Power=.51) Related
Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,76|C,42) SNP Type: INTRON
Context (SEQ ID NO: 175):
AATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATGGGCATTTTTCAGCTTGGTAAA-
ACTCTCAAATGGTTAAACAAACTTGA Y
AGTTCTCGTAAAGCTTCCCCATAAACTTAATTTTGTGTTTGGGTTAGCAAATAATTGAAATGAGGTTTTGACTT-
TCTTTGGACTACACATGGGGGTCCAA Celera SNP ID: hCV30830397 Public SNP
ID: rs10760139 SNP Chromosome Position: 122837512 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 126912 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,33|T,87) SNP Type: INTRON Context (SEQ ID NO: 176):
CCAGATTTTTGCACAAGCCATACTGAACTACTTCATGTTTCCATACTCATGTTTTGTTCCAGCCACACTGAATT-
ACTTAACATTCAGCACATTGCCAAGC Y
CTTTTCCCCCGCTTCCGGGGTTTGCACAAGTTGTTCCCTTTGCCAAGCAAATTCTTCCCCACCTCCCTACTCCT-
TGCCTAAACTCTTCTTTTGGGCGTAG Celera SNP ID: hCV30830427 Public SNP
ID: rs10760142 SNP Chromosome Position: 122875375 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 164775 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,77|C,43) SNP Type: INTRON
Context (SEQ ID NO: 177):
GGTGCCCAGAGCCAGGCTGGGGTGTTCTCTGTGTCTGATGTCATAGAACATCAACATCAGACAAAATGGATCCA-
TACTAAAAACGACTACTCTATAATCA W
GTTTGAGCAGGATATAAAAACAAGAACATTGTCCAAACCACAAAAATGACCACACACACCCTTTTCCTGGCTAA-
AGTGAGTAAGTGCTGCTACTTTTCCT Celera SNP ID: hCV30830913 Public SNP
ID: rs10818489 SNP Chromosome Position: 122748485 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 37885 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,118|A,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 178):
GTTTCCTTGTTCTTTTACAAGTGATTTTATACATTAAATTATAGTATTTTGGTACAGATGCACCAAAGCTATTT-
AAGCCATTTCCCTTTCTGTAGACATT Y
AGGTTGTTCTCAGTCTTTGCTCTAATTGATTTAATTATTTTAAAGATTTTTTTTTTGATATTAATCGGAACTTG-
CCCCTCCACAACTAGGTGCCTTTTCC Celera SNP ID: hCV30830325 Public SNP
ID: rs10818494 SNP Chromosome Position: 122786259 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 75659 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916
(Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related
Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP:
hCV2783655 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV2783653 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,74|C,38) SNP Type:
INTRON Context (SEQ ID NO: 179):
AGATAAAAGATTGTTCCTATCCTGTGGCCTTGATGTTCACACCTAGGATGAGTAAGGCAAGACTGCTCTGGAAA-
ATTGTTTGCAATAATGTCAGCAGAAG M
AGCATCTGTGGTGAAAAAAAAAAAAAAAAGAAAGAGAAGCCAAGGACACAGTGGCTTTTGAGGCTTGATATAAT-
TGCATGAGGCTAAAACCCTTGAAACT Celera SNP ID: hCV30830339 Public SNP
ID: rs10818495 SNP Chromosome Position: 122797008 SNP in Genomic
Sequence: SEQ ID NO: 78
SNP Position Genomic: 86408 Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (A,61|C,53) SNP Type: INTRON Context (SEQ ID NO: 180):
GCACTGTCCTCCCAACCTTGTGGGCAGTTGCAGATGGGACCTGCCCCAGGCTGCTTTACAGATGGGAACCTAAG-
TCAGATGGTGGTAGTGAGGAGAGGTT R
GAGGATACTGGCCCATTGCAAGTGTGTGCCAGTGTTATTACTAGCAAGGGATCTTTTGTGATTTTTTTTTACGT-
TTTTGAAAATAAAAGAATAAATAGCT Celera SNP ID: hCV30830801 Public SNP
ID: rs10985095 SNP Chromosome Position: 122738904 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 28304 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,118|G,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 181):
GTTCTTACAAAATCCCAGTGATCTGGCCCCTCTCACTTCTCTGACCTCATTGTCCATCACTTGCTTTCTTCGAT-
CCAGCCACGTCAGCCTTCTCGCTGTT Y
CCTGGACCCCTGGGTCTTTACACGCACCAGCCTGGACCTTCATGTGGTTGTTCCTTCTTGTCAAGAAAATCTCA-
GCTTAAATGCCACCTTATTTAGTGAT Celera SNP ID: hCV30830887 Public SNP
ID: rs10985097 SNP Chromosome Position: 122743715 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 33115 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,118|T,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 182):
CTCATCTCTTGTTTTTTCTCCTAATTCAATGGATCCTCTATCTCTTTTCTCTAATAACTTCATCTTGGAATGCT-
CAAAATGTCTATCCTTGGTCTTCTTT Y
TTTCCACTCCTCTGTCTGTATTCACATCCTTAGTGATCTTAACTAGTCTAATGGTTTTAGTATGCTGATGATTC-
TCAGATTTATGTTTTTCAGCCCAGAG Celera SNP ID: hCV30830915 Public SNP
ID: rs10985105 SNP Chromosome Position: 122749983 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 39383 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,118|C,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 183):
TTATGGAGTTCTTATGATTACTCTTTCTAGGATTACTGTTTCTTGCTTTTCCAACTCTTTTCTTTCTGCTTCAA-
TTATTTTTAAAAGAAGACATGCTAAA R
TCTCTGTTTTTTACAAGAAAAAAAACCAGGTATCACAAAATCTTTGAATTTTTTTTTCCTTCCAAAATAACTGC-
CAAATCTCTCAAAACACTTAGTCTAT Celera SNP ID: hCV30830419 Public SNP
ID: rs10985140 SNP Chromosome Position: 122862658 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 152058 Related
Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV11720413
(Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related
Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP:
hCV2783608 (Power=.7) Related Interrogated SNP: hCV2783638
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783582
(Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,63|A,57) SNP Type: INTRON Context (SEQ ID NO: 184):
GTATTGAAGACAGAGAGGGGCCACAAGCCAAAGAACACAGGTAGCCTCTAGAATCTGGAATAGGCAAAGAAATT-
CTAGAGCTTCCAGAAGGAATACAGCC Y
TACCCAGCTCCTTGATTTTGGGACTTCTCACCTCTAGAATTGCAAGATAGTAAAACTGTGTTGGTTTAAACCAT-
TACATTTGCAATAAATTGTTACCTAG Celera SNP ID: hCV30830938 Public SNP
ID: rs12235400 SNP Chromosome Position: 122770510 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 59910 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,117|T,1) SNP Type: INTRON
Context (SEQ ID NO: 185):
CAGTCTTTCATTATTTCTTTCCAATTTAAAGCACTCAAGACAATTTCGTACATGCAGCACTTTTCATAAATTAG-
GCTGTAAATTATATTTGTTATTTAAA Y
CTGTAAACCTCAAATCCTTTTTGGAACAAACTATTTGTTTTAAAAAAAGTAATGCATATTTGGAAATCATATTT-
GAAGGTTAGTAAAAATTTTGATGTGT Celera SNP ID: hCV30830319 Public SNP
ID: rs7037673 SNP Chromosome Position: 122780305 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 69705 Related
Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP:
hCV2783582 (Power=.7) Related Interrogated SNP: hCV2783625
(Power=.7) Related Interrogated SNP: hCV2783638 (Power=.7) Related
Interrogated SNP: hCV2783633 (Power=.7) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV2783653
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related
Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP:
hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,79|T,41) SNP Type: INTRON
Context (SEQ ID NO: 186):
CTTTAAAAGTACTATTATTTTTAATTGGTAAATCATACTTATATAAAATATTAAAATTATATAAAAATATTAAA-
ATTACATAAAAATATTAATGTTAATA R
CGTGAATACAATTAACAGACTGTGGGTAAATTGTACTTAACAAATTATACTTTTCTTCTTTTTTGGGACTGTTT-
ATTTGTTTATACAATGGAAAGTTTTC Celera SNP ID: hCV30830342 Public SNP
ID: rs7040319 SNP Chromosome Position: 122799073 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 88473 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,63|A,55) SNP Type: INTRON Context (SEQ ID NO: 187):
AGATAAAATCATACTCATATTTCTCAATTTCTTTCTAATAGTAATTTTCATAGCAAACAAGTATTTTCAATTAT-
CTCCAAATATTTTCACATTAGTACAA Y
TTTATTTTCCAATAAGAATGTGAAAATGGACATGCATTGCTCAAAAAGCAGACATAACTTCTGTTTAGAATTTT-
CTGTTTCTGTTAGAATTTTCACTTAC Celera SNP ID: hCV30830406 Public SNP
ID: rs7040603 SNP Chromosome Position: 122848041 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 137441 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 188):
AGATGAAGTGTAACAACACGTAAAAACAACAACAAACAAACAAACAAACAAACAATGATGTTTTTGATAAACTA-
AATGTGAATTTTGTTGGCTTTATAAA Y
ACCAGAATCTAATTTTTATATATGTTCATTTAAAGCTTTCAAAAGCAAATATTCTATGAATTATATTTTTTAGC-
CAGATGTTTTATAAATGTATAGTATG Celera SNP ID: hCV30830396 Public SNP
ID: rs10739584 SNP Chromosome Position: 122837364 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 126764 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,32|T,82) SNP Type: INTRON
Context (SEQ ID NO: 189):
TCTGGAGTCAGCCTGGTACCATACTCCAAGCGTACAGAATTCTTTGGAGACTGAGCCAGAGCGTAGGATGGCAA-
TGTGAAGCAGCATGCTCTGAGGAAGA Y
GTGAAGGCGCTGGGGCTTTTAGCCTGAAAAGGGAAGCACTCAGGTAGGACAGAATCTGACCCTCCATCCCTGAA-
GGGCTGTCATGGGGACTAGAAGGTGG Celera SNP ID: hCV30830577 Public SNP
ID: rs6478488 SNP Chromosome Position: 122714954 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 4354 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,116|T,2) SNP Type: INTRON
Context (SEQ ID NO: 190):
ACAGCAGTGGTTCTTTGCCTTCCTTGGTTTGTACATGCATTACTCCAATTTCTACCTCTGTCTGCATGCGACCG-
TCCTCTCCCAGTGTCTGCATCTTCAC S
TGAGGTTTTCTCTGCGTATCCCTGTGTCTACATTTCCCTCTTCTCATAAGGACACCTGTCATTTTAGATTAAGA-
GCCACCCTATTCCAGTGTGACTTCAT Celera SNP ID: hCV30830870 Public SNP
ID: rs7027145 SNP Chromosome Position: 122743040 SNP in Genomic
Sequence: SEQ ID NO: 78 SNP Position Genomic: 32440 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,118|C,2) SNP Type:
INTERGENIC;UNKNOWN Gene Number: 2 Gene Symbol: CEP110 - 11064 Gene
Name: centrosomal protein 110kDa Chromosome: 9 OMIM NUMBER: 605496
OMIM Information: Genomic Sequence (SEQ ID NO: 79): SNP Information
Context (SEQ ID NO: 191):
CTTGAGTAGAGTTATTACTCCTAGTCAAGGAGAGCTGCATCAAGGGATTCTCCAGGAGAGCAGTAAGGGTATAT-
TATTTTCTGATGACTGATCAAACAGA Y
CCTGATGCACATAAGTAAATGTTGTACTTTATGTCAAGTCATCTGTTGTGTAAAGTATTCATTCATTTGTTTCC-
AATTAGTATATTGAGAATTTGGAAAA Celera SNP ID: hCV1632190 Public SNP ID:
rs10760146 SNP Chromosome Position: 122896906 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 62236 SNP Source:
Applera Population(Allele,Count): Caucasian (C,24|T,16) African
American (C,28|T,10) total (C,52|T,26) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,76|T,44) SNP Type: INTRON Context (SEQ ID NO: 192):
CCCCTCCTCACATGCTGGCCAGATAGCTTCCCAAGCCCTCTTGATCACCTCTGTAATGGAATTGTCCCTGTGGG-
CTGTCTTCTACTTTCTTTTGACCTGG M
ATCTGTCTCATGTCCATGCAGGTTCTCTGGGACACTATTTGTTGTTTAATGACTAATCAAGATTATTCTTTATT-
AAGATGTTTCAGAGACTCCAGAAAGA Celera SNP ID: hCV3045803 Public SNP ID:
rs2146836 SNP Chromosome Position: 122970117 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 135447 SNP Source:
Applera Population(Allele,Count): Caucasian (A,13|C,27) African
American (A,23|C,13) total (A,36|C,40) SNP Type: TRANSCRIPTION
FACTOR BINDING SITE;INTRON SNP Source: dbSNP; Celera; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,51|C,69) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
193):
CAAATGTAATATTCTAGTAGTATACTGAGGGTATGCAGACCATTGGTTTAAATAACAAAGAAATCAAGTAGGCT-
GGTTCCTCTTCACAACAGCAGATACC R
TAGGGCCATTTATGTAACATAACCATCACATAAATAAAAGTTTTGATGGAGAGCAGTGGTTTGCTAATTTATTT-
TAGCCTTAGAACTCTTGATACAAACA Celera SNP ID: hCV7577271 Public SNP ID:
rs1535655 SNP Chromosome Position: 122968390 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 133720 SNP Source:
Applera Population(Allele,Count): Caucasian (A,27|G,13) African
American (A,16|G,16) total (A,43|G,29) SNP Type: INTRON SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,48|A,72) SNP Type: INTRON Context (SEQ ID NO: 194):
TAGCACTATCTTTTGGAAGAAAGGAGGGGAATGAGAGGGAGAGGTATGGCAAAAGTGAGGTAGAGGGAATGACA-
GTGAGGGAAATCTTGTTGGATAGTCT K
GAGCTTCTTAGTATATAGACAATGTTGTTGTCAACTGAAGGGCAAAGAGAGTTTGGTAGCTTGAGTAGAGTTAT-
TACTCCTAGTCAAGGAGAGCTGCATC Celera SNP ID: hCV1632189 Public SNP ID:
rs12685539 SNP Chromosome Position: 122896746 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 62076 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,118|G,2) SNP Type: INTRON Context (SEQ ID NO: 195):
CAGTAAATGTTAGCCACTAGTATGATATTCTTTAGAATTAACTTCAATCATCATCTTTTCATTAAATTTTTGGA-
AGTAGACAAAATTCATATGGAGTCAA R
TTTACTGAGTAAGGTTAGTGATCAAACTGGGAAAATAAAAACAAAGTGTACCTGAAGCGATGGACCCGATTTTC-
TTGTGAGACTTAAGAATTAGTTTGAA Celera SNP ID: hCV3045792 Public SNP ID:
rs6478499 SNP Chromosome Position: 122882694 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 48024 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,47|G,71) SNP Type: INTRON Context (SEQ ID NO: 196):
GTTTTCCTTGATTTAGAAGCAAAGGCAAGTTATTTTATAACAGGCAGGTAAATAATGCCACATTCCTAGAGTAT-
GGTGTGTTGCCAGAATCTGGTATTTT W
TGATGTGATGATTTTAATGAAGAGGCAAACATTCCAATGACTCCTAGAGATCGTTCAAGATAAAACCATTCCTG-
ACAACTCATTAGTAAAAAATTAAGTT Celera SNP ID: hCV3045796 Public SNP ID:
rs2068055 SNP Chromosome Position: 122943988 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 109318 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,109|T,11) SNP Type: INTRON Context (SEQ ID NO: 197):
TCTAAAATGTATCTGGAATATATGTCCTTTTTCCTTCTCTGATGCTAGACCCTTGTGCTGTCATCATCTCTCTT-
CTGGATGACTACTGTGGCTGTCTGAT S
GATCTGTCACTTCTACTCATGACCCTGCTCCCCAGAGCAGCCAAGATGCTCTTTCTGAAATGTCAAGTGGCTGT-
AATCAGTCTCCCCTCCTGTAGCTTCC Celera SNP ID: hCV3045797 Public SNP ID:
rs7036541 SNP Chromosome Position: 122945456 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 110786 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,73|G,43) SNP Type: INTRON Context (SEQ ID NO: 198):
TTTTCATCTCGTGCAGTCATGTGAAAATGTTACTTCATAGTATGACTCCTTACTGAGCTAATGTCTGTTACTGT-
GCTTTATAGGATGCAAATGCTAATGA K
ATTAAGATAGCAGATCATAGGAGACAAAAATCTAATGATGAGAGCCCAGAGAGACATAATCATGGAAGACGGTA-
GTAAAAGTAAAAAAGTAAAAAAATTA Celera SNP ID: hCV3045798 Public SNP ID:
rs12683062 SNP Chromosome Position: 122946625 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 111955 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,105|T,15) SNP Type: UTR3;INTRON Context (SEQ ID NO: 199):
TCTTTTTAGTAGTTAGGCTACAAGTATCTGTATTGTCTACATTTAACATTTTTTAATGGGTGTATATATTATTT-
TTTAGGGACTTCATTGATGGAAATGT W
GAGAGTCTTATGACTGAACTAGAAATAGAAAAATCACTCAAACATCATGAAGATATTGTAGATGAAATTGAGTG-
CATTGAGAAGACTCTTCTGAAACGTC Celera SNP ID: hCV3045800 Public SNP ID:
rs3736855 SNP Chromosome Position: 122956841 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 122171 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,76|A,44) SNP Type: ESS;SILENT MUTATION Context (SEQ ID
NO: 200):
AAGTCCAAACTGTATGACTCCCTTTATGTACTACAATACATGCTCATGCATGTCTGCTATATGGACAGATCCTA-
CTGTACACACAATTGTTTTCTACTCT Y
TCGATTGTCACAGCTCCATTTTTATCAGATTTTTGGAATTCTGAATGTTATCCATGTTTTTAATCCATGATTTT-
TATAAAACTTCAATTTAGTGAGTCAG Celera SNP ID: hCV3045802 Public SNP ID:
rs2057466 SNP Chromosome Position: 122966751 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 132081 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,51|C,69) SNP Type: INTRON Context (SEQ ID NO: 201):
TATCATATGATATTTCATTTTTAAAAATTCAATTATTAAAATATATTATACTGATGGCTACACACCATGTATCT-
GAAAAAAATATTAGACTGAGATTTTA Y
TTATATGAGCCAAGAAACCAAAATAAAACACCCATATTTCTAATTTGAGAGATCAAGCAGTGCTAAAAATCACA-
TAACTGTAGGCAGTTCTTTAATCAAT Celera SNP ID: hCV7577296 Public SNP ID:
rs1407910 SNP Chromosome Position: 122915251 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 80581 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,47|C,73) SNP Type: INTRON Context (SEQ ID NO: 202):
GGAATATTATCCCATTAATGAATCTTGAGATATTTCTTTGTAAGAAGAATTATATCACTGCTTCTCATGAATCT-
CACCAGCATTGACCTATGACCCCCAT S
TCTTCCATTTCAGTTCTTTTAAATTTTACTTATTCACTTTGTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTA-
AATTATTCTTTTTTCCTTTTCCTACT Celera SNP ID: hCV7577317 Public SNP ID:
rs1323472 SNP Chromosome Position: 122866156 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 31486 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,62|G,58) SNP Type: INTRON Context (SEQ ID NO: 203):
TGTAGCAAAAACCTAAAGCAATGCTTTGTATAAGCTGCAACAGAGCATTCTCCTCAGGCCTGGGCCGAAGGCTA-
GCCTCTGACTTTTCCTGACATGCCCC R
TGCCCCACAATCTAATTCAAGGGATCTTAATACCTTCTGGCAAGTCACATAAAGGAATAAGTCAAGGCAGGGGG-
ACACTTTAGAGACCCTGCCAATGACA Celera SNP ID: hCV11720383 Public SNP
ID: rs1951784 SNP Chromosome Position: 122916272 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 81602 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,76|G,44) SNP Type: INTRON Context (SEQ ID NO: 204):
TATAATGGGGAAGATGTGGTTTAACAGAAATATGTGGAAAGGCTTATGAATTGTAGTTGACTGTGTGCTAGATG-
ATATGGCTTCCCAAAAGACTAATGCT R
TCTTGAGCTGCATTATGTACTCCTAGATATTTGTATTTTTTAAAAACAACATTGTAGGTGAGGCTGTTCATTGG-
CAAAAACATTTAGAAGGCGATCTGGC Celera SNP ID: hCV11720386 Public SNP
ID: rs1998506 SNP Chromosome Position: 122910284 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 75614 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,50|A,70) SNP Type: MICRORNA;UTR3;INTRON Context (SEQ ID NO:
205):
TTAGCTGTTTTTCTAAAAATATAACTTTCATCAAAGCTCCTTACATTCACTACCACCACCCAAATAGGTCCTTG-
CTCCTCGGTCATCAATGCTTATAATT W
GCAAGTGTACTTTAAGTTCCTGAAGAGCAGCAGCTTCAGGAGCCTACTTTGAAAGCGCCACCTGCTGGTATTAA-
CTTAATAGCTTCCCAAAGAAAGCTGG Celera SNP ID: hCV11720394 Public SNP
ID: rs1924081 SNP Chromosome Position: 122862268 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 27598 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,33|T,87) SNP Type: INTRON Context (SEQ ID NO: 206):
TTTGGCAGTAATTTGATGGCAGCATGTCCAGGGGATTCAAGAATGAGTAAATCCCCTCCTTCAAATAAGCACTG-
GAACTATATATTCGAAGTCACAATTA R
TAATAACTGAAGCAAGTAAAGAACCACTTGATTGATTACTATGCATGTAGCAAAAACCTAAAGCAATGCTTTGT-
ATAAGCTGCAACAGAGCATTCTCCTC Celera SNP ID: hCV15751719 Public SNP
ID: rs2146838 SNP Chromosome Position: 122916126 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 81456 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,65|A,55) SNP Type: INTRON Context (SEQ ID NO: 207):
TGTTCTTTAACCTATGTAATGCTGCTTTACCTCAGCTAGAACCGATAGAATCTAAGTATTTGGGAGAGGAAGTA-
GAAACACAGTGATGAACTGTAAGGTT W
TCATAGGCCAGTGGTGGCAGGAAAGATTTGGGATACTGGAAAAGTAGGCTGAATGTCAGGTAAGGAATTGTTTG-
GCTCAGAACATGTTGACTTTGAAGGC Celera SNP ID: hCV15757738 Public SNP
ID: rs2302498 SNP Chromosome Position: 122976150 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 141480 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,63|T,57) SNP Type: UTR3;INTRON Context (SEQ ID NO: 208):
ATAGTGCGTATCCAGTACTGTACATGGGATGTGTGTGTTTGTGTTCTAAGTGTTTAGGTTACACATTTATGTTG-
CCAGTCTTGGATTCATCTTATATACT R
GGTGGTCTTGTTCTTTGTATTTAGCAGCAAGAACTCACAGTTTTGGTACATATTTTTTATTTTATTTGTAAATT-
AAACTTTTTTTTTTTTTTTGAGACGG Celera SNP ID: hCV15849105 Public SNP
ID: rs2900185 SNP Chromosome Position: 122927191 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 92521 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,47|G,73) SNP Type: INTRON Context (SEQ ID NO: 209):
TGTATTACAGAGGTATAGATCTATGATTCTATACTCATTGCAGATGTTCAATAACCATTTATGGAACATTGAAT-
GATTTAGTGTAGTGTGAGGACAGGGT W
ATGAAATGAGATTCTTGTCCTGAAAAATGAATTAAAGTATTATTTAAATAAATAAAATACTTACTATGAAAGTT-
AAGACAGTTTCTCTTTTGGCTGGCTT Celera SNP ID: hCV26144282 Public SNP
ID: rs10818499 SNP Chromosome Position: 122839915 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 5245 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,76|A,44) SNP Type: INTRON Context (SEQ ID NO: 210):
TCTTGCACATTGTAATTTGTAACAATTTCTTTCTATTCAGCATTTTTCTATAATCTCTTAAACGGGTTCTTTTA-
CTCTCCAAACTTACCTGGCTGTTTAT R
TAGTTTCTCAGGTGCACTTTTATACTTCCCTTCGTTTGCATGTGTTACTTCTTCAGCCTAGGTCTTTCCCCTTC-
CGTTCGTTCTTCAAAACCCAGGCAAA Celera SNP ID: hCV27476319 Public SNP
ID: rs3747843 SNP Chromosome Position: 122954127 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 119457 SNP Source:
Applera Population(Allele,Count): Caucasian (A,15|G,19) African
American (A,23|G,9) total (A,38|G,28)
SNP Type: INTRON SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (A,75|G,45) SNP Type: INTRON
Context (SEQ ID NO: 211):
TGTACTGTTTTTAGACTAAATGTACTTATAAGAACAACTGTGTATCATGAAAATCATTTTTGCATACACCTAAC-
CTTGCAAATGTAGGACTCTTGATGTT R
AGGACTAGTATTGCTCATGCAGACATTTTTTGTTGAGATACTAACTAGTACATTTTACATTTTATGTTATTTAT-
GATTAACTCATTCAATAAATGTTAAT Celera SNP ID: hCV27912350 Public SNP
ID: rs4837808 SNP Chromosome Position: 122886441 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 51771 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,47|G,73) SNP Type: INTRON Context (SEQ ID NO: 212):
TTTCCAGTTCATTTGACATCTATTTTGCTTTTATTCATGCATTTCTTCAACAGATATTTATTGAGTGCTTACAA-
TATGCTAAGCCTGGGGCTTATAAAAG K
CACAAAAGTACTTTGAAATGCACAGCCTATTTATTATTATTTGCCTGCAGAGACCAGTTCATGTATTCTCTGTG-
ATTCCAGTCACATTTGCCTGTTGTTT Celera SNP ID: hCV27912351 Public SNP
ID: rs4837809 SNP Chromosome Position: 122913032 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 78362 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,47|G,73) SNP Type: INTRON Context (SEQ ID NO: 213):
TCTTTAAAATATCTGTTGAATGCATGTCGTGAACGCCGTGCTCATGGGCAAGCCCCAGATGAAGCCTGTGCAAG-
TGCTTCTTGCTTTAACTCCCTTGTAG Y
AATCAGAGGAACATCCTCTGCCTAGGATTCCCAAGCTCCCTGAACCTCACGCGACAGCTGGAGCCCAGGCTGCG-
TCCGCTTTGAGGTTCATCCGAGCCTG Celera SNP ID: hCV29005933 Public SNP
ID: rs7042135 SNP Chromosome Position: 122876474 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 41804 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43) SNP
Type: INTRON Context (SEQ ID NO: 214):
GAAATGCTAAAAGAAGGGGAAGAACAAACACTTCCGTTATATTCGTTAAGGGACTAGAGAATTTTGAAGCCAGA-
CAAACTTGGGTTGAAGCCTCAATTCT R
CCACCTTGTGTAACTTAACCAGGTCTGTGACCCTGGATATGTGTCTGAGCCTTCCTGATCATGTTTCCTCATTT-
GTCCAAATAATTGCGAATCATTTTTG Celera SNP ID: hCV29005936 Public SNP
ID: rs6478498 SNP Chromosome Position: 122877723 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 43053 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,77|A,43) SNP
Type: INTRON Context (SEQ ID NO: 215):
AGGAATCGGAATCAGGATATTTGAAAGGAGGAGAAGATTAAGGAGTAAAAGTATTTCAGTAGGTCAGAGGGTAT-
GGGATGAAGTAGACTTGGAAAGTACT S
AAATCCAATTAAAGGGCTAAGGAGAGGGATATGGGGGTTAATAAATGGGGATGGGTATTTGCATATTAGGGAGT-
CTGTAGAGAGACAGAAGGAGGTCTGC Celera SNP ID: hCV29005938 Public SNP
ID: rs7856420 SNP Chromosome Position: 122878978 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 44308 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|C,70) SNP
Type: INTRON Context (SEQ ID NO: 216):
TAACAGGATAAATTTTAAGTTAAGGTATGATATTTTTTCTCTCTCTGTACAAAGGACTTAAAAGGAGGAGGAGT-
CAGAGATGTAAGTTCCTGTTTTTACA R
TAACTCTTTTGTGAGCTCCACCGTGGTGTAAATCGCAGAATCTACTTTTGTTCCCATGTATTTAATGTACACCA-
TTGGCATATTGAACCAGATTTTTATC Celera SNP ID: hCV30293181 Public SNP
ID: rs10081760 SNP Chromosome Position: 122924127 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 89457 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,50|G,70) SNP
Type: INTRON Context (SEQ ID NO: 217):
AATGATGCTGGTACTATCATTATTCGTACTTTGCAAGTGGTAAAAGGCTAACTTGGCTAAGGTTATACGGTTTG-
TAAGTAAATGGGGGAGGCCTTTATAT S
AGTTCTCAGTTGTTATGTGTACAGTTGAGGTCAAGTTTATATGTTATTCACAACCATAGACTGTTCTCTTATTT-
TTACTTTTCATGTGATTTATACAATA Celera SNP ID: hCV30830407 Public SNP
ID: rs10739585 SNP Chromosome Position: 122849360 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 14690 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|C,87) SNP
Type: INTRON Context (SEQ ID NO: 218):
GGAATGGGGCATTTGGCTATATTGTAATGTATGTGAAATAATAATCAACTTTTTAAAAACAAAAAAAGACGGGG-
TTTTTATTCCTTTCAAACTACTCACC W
TGAGAGACCGGATCATGATATCAGAGATCCTTTCTTTGTATAAAATTTTCTGGGTTTCCTTCAGGATTTTTTTT-
GTTTTGTTTTTTTGAGATGAAGTCTC Celera SNP ID: hCV30830435 Public SNP
ID: rs10739586 SNP Chromosome Position: 122881893 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 47223 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,50|A,70) SNP
Type: INTRON Context (SEQ ID NO: 219):
AAGCTCTCTGCTTTCTTTGGGCCAGCACTTCCACTGGTTGTTCCTGGAGAAAAAAGTCACCATCCAGTATTGTG-
GTGTCATTATAAACTCATAGTTACCA R
TCTCAAATAGACAATATGACCCTTTTCTGTGGTGAGCTTCCTCTCCCATGCCTCACTGTTTCACACCTTCTCAT-
TCCTCACACCTGCTGTCTGCTTTCTC Celera SNP ID: hCV30830506 Public SNP
ID: rs10760151 SNP Chromosome Position: 122945183 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 110513 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,76|G,44) SNP
Type: INTRON Context (SEQ ID NO: 220):
TCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTT-
TTTTACTGGGTATGATGCCCTTGAGA M
CCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTC-
CGAACTGTTTAACCATTCACCTGTCA Celera SNP ID: hCV30830538 Public SNP
ID: rs10760152 SNP Chromosome Position: 122987806 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153136 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,47|C,71) SNP
Type: INTRON Context (SEQ ID NO: 221):
ATTTCCTGATAAAAGCTCATCTTACCACTGATAACACAGTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTA-
TAAAGCCAAGTGAGACACAAGCCTTG Y
TCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTCCTCACATTGTTCCTGGCATACCCTCAACAATATCTAC-
TGAAACTTCACTCACCCCTCAAGGAC Celera SNP ID: hCV30830539 Public SNP
ID: rs10760153 SNP Chromosome Position: 122988196 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153526 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,44) SNP
Type: INTRON Context (SEQ ID NO: 222):
TTAGTAGCTGGATTATGTGTTTGCTTTCAACAAATGACTGTTATATTTCTGGCGGACAGAGAGTTCAATTCCCA-
CTGGATTTCTGTAGAGAATTATACAT R
GAAAGGAGGTAAATGAGACATGGGAATGGCATCCAAGTTTTGAAGTTAGCTAAAATCAACCTGTGCAGTGGGGA-
TGAAACATACAAACCAGATTTGAATT Celera SNP ID: hCV30830484 Public SNP
ID: rs10818508 SNP Chromosome Position: 122922855 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 88185 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,47|A,73) SNP
Type: INTRON Context (SEQ ID NO: 223):
AAGGATTAGAAAGAGAATGTGTGTGATAAGAGGACAGTTGTCCAAGTCAGACAGCCAGGTTCCAGGCTGGACTC-
TGCTAGTTAAGAAGATGTGAGAATTT R
TGCAAGTCATATAAGTCCCCTGGCTTTGCTTTTCTTATCTATAAATTCAGGCTAAGAATACGTAGGCTTTTCGG-
CATGGATTAAATAAAACAGCGTATTT Celera SNP ID: hCV30830512 Public SNP
ID: rs10818512 SNP Chromosome Position: 122957176 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 122506 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,48|G,72) SNP
Type: INTRON Context (SEQ ID NO: 224):
AGAAAAGAATAAATGCGGCTATGTATTATAGTTGTTAAGCATGAAGTCTGAACTAAATTTGAATCCCAACTCAA-
TACAATACTTCTGAATAAAAAAAGTG R
GTCTCAAAACATGGTATACTCTATGAGATCATTTCTGTTAAATGCCTTTATCAACACTTATGGTTGTATTTTTA-
GTCAATACCAAAGTACAAAAGTGGTC Celera SNP ID: hCV30830514 Public SNP
ID: rs3736856 SNP Chromosome Position: 122960384 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 125714 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,59|A,61) SNP Type: INTRON Context (SEQ ID NO: 225):
AACAAACTGCAGGAAAAACAGGTGGATAGGATTTTTCAGATAATTAAACTCTCGAAGAAGACAGATGTCTGAAC-
AAACAAGTACCTGAATCATCACTCAG K
TCTCCAAATCTGTGAGGTTGCGGGCCTCTTGGCTGGCTGAGATGGTAGCTGTTATCACCAGAAATAAAAGGGCA-
GAGTTTATGTGGCTTGGAGGAAGGGT Celera SNP ID: hCV30830503 Public SNP
ID: rs4837811 SNP Chromosome Position: 122941415 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 106745 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,47|G,73) SNP Type: INTRON Context (SEQ ID NO: 226):
AAGGGACCTGTTAGGAGGCTAGCGTAGCAATCTAGGCTGGAGTCTATGCCATACCATCTGAATACATTCACAAG-
ATCTTGAAAGCTAAGCAGAGTCAGCC S
TGGTTAACACTTGGATAGGAGTGATCCAGGTTGGAAACGTTTATGGCCTGTAGTTAACATGCTGGATGTGGAAA-
TGAAAGATAGATGGATCAGTTTTGAA Celera SNP ID: hCV30167357 Public SNP
ID: rs7022941 SNP Chromosome Position: 122907291 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 72621 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|G,43) SNP
Type: INTRON Context (SEQ ID NO: 227):
CCTCTTAAGACTGTTCCCAAGACCATGATCACTCATATTGGCTCAAAATATTCCACTCTGAAATATTTCACAGA-
TTTTTTTTCCTCTGTTAGCAAGTCCT Y
GGGCAAGGTCTAGTGCTGTCCTGGTCTTGGAGGCAGTGGACTTAGGGTGCAACACAGTTTAACACTAGCTGTGG-
CAGCCACAGGAGTATGTATGTCACTC Celera SNP ID: hCV30830417 Public SNP
ID: rs7029523 SNP Chromosome Position: 122857434 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 22764 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP
Type: INTRON Context (SEQ ID NO: 228):
CTAAAAGGCACTTCAGCCATTAACTTTTTTTCATGTAAAATTACAGCTCCTGGCTCTTCCACTTTCAAAAATGT-
GTGTCCATAAACCAAATAATCATTTT K
ATCTGAATGTAAACCTCATGCAAGGACAGTTAAGTAGTACAACAAAAGTGAGCATTCTTTAAACAGTGTGGACA-
AAGTGCCCACTGTGAAGGGGAAGAAA Celera SNP ID: hCV30830536 Public SNP
ID: rs7047038 SNP Chromosome Position: 122986768
SNP in Genomic Sequence: SEQ ID NO: 79 SNP Position Genomic: 152098
SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,48|G,72) SNP Type: INTRON Context (SEQ ID NO: 229):
GTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCATGGTGGAA-
CATAACACAGGACAGAATTCTGCAGG Y
GCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGGAGAAACCC-
AGGTCATGGCTAGCTTCACCACTGGC Celera SNP ID: hCV30830415 Public SNP
ID: rs7855998 SNP Chromosome Position: 122855917 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 21247 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43) SNP
Type: INTRON Context (SEQ ID NO: 230):
AACCACAGGCTGCACAGCAGGAAAGAGAATCCGTGTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTG-
CACTGGAAGTCAGTGCTGCCCCGTCA Y
GGTGGAACATAACACAGGACAGAATTCTGCAGGCGCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGAC-
AGAGGAGAATTCTGTGCTCCAGAGGG Celera SNP ID: hCV30830414 Public SNP
ID: rs7871371 SNP Chromosome Position: 122855883 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 21213 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,85) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
231):
GACAGGAATGTAGCAGATAGGACAGGGTGCTATTGAGTTTCCCAGGTCTCCACTGGCTGTTTGCTAGTACTGTT-
CACAGTAGTCGGTGAGAATGCCATGG W
CACATTTTTCTTTTCTATGTTATGGAGTTGCAAAGTCTAATAATAAGATTGATAGGATTCCTGGGCATAGTAAT-
AAAAAGTTGGCAGTTTAGCTGTTCTG Celera SNP ID: hCV30563729 Public SNP
ID: rs9299273 SNP Chromosome Position: 122898251 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 63581 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,47|A,73) SNP
Type: INTRON Context (SEQ ID NO: 232):
AGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTAAGTCTTTCTGAGGC-
TAAAATAACTTACTGTGAAAATAATC R
CCTTCTTTACCAGGCTCTGGTAAAGATTAAATAAGAACATATATATGAAAAGGTCTAGCACTCTTAGTACTCAA-
TACATGTTAAGATTTATTAATCTCAC Celera SNP ID: hCV30527383 Public SNP
ID: rs9644911 SNP Chromosome Position: 122848925 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 14255 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,31|A,83) SNP
Type: INTRON Context (SEQ ID NO: 233):
TTGTTAAATCAGTATAATGAAAAGACAAAGTTGAGAGTTACACAAACTTGAATTCAAATCCTGTTTCATTCACT-
TACAAGGCTTTGAGCTTTGGGCAAGT Y
GCCTAACTTCTTTGATCCTGAATTTCTTCATCTGTAAAATTAAGATGATACTTACATGATAAGTTGTTGTGAGG-
AGTCACAAATGAAATAGTGTATGGAA Celera SNP ID: hCV29824827 Public SNP
ID: rs9657673 SNP Chromosome Position: 122900196 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 65526 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,73|T,41) SNP
Type: INTRON Context (SEQ ID NO: 234):
GATAAGTGTCATGAAGAAAATAAACAAGATGCTGAGATAGGGAGTAAAACAAAGCAAGAGATTACATTACATCA-
TGCATCCAGGAATAGCCTTTTTGTAG Y
AGCTTCTACTCTGGGTCATAACAATGAAAAGAAGCCAGGCTTATGAAGAGCCAGGTGAAGCCCATTCCAAGTAG-
AGGGGATGACATGTGCAAAGGCACGG Celera SNP ID: hCV30830395 Public SNP
ID: rs10985132 SNP Chromosome Position: 122835515 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 845 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP
Type: INTRON Context (SEQ ID NO: 235):
TATTACAGGAAGAACAGATTGACCAAGCTTGTCTGAGATGCCAAACTCAACCTCACTTGTGAAAAGTCAAACAC-
TGTCATTTGGGAAAAGTCAAACACTT Y
TGAAATGTAAACAAAGTTTCATTTATTAACCTGGGTTACCAACAGGCATAATCAAGGTACAATCTTTTAAGTAA-
CAAAAATTCATATTATTTTGAAATGT Celera SNP ID: hCV15751717 Public SNP
ID: rs2296077 SNP Chromosome Position: 122984764 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 150094 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916
(Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related
Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP:
hCV2783655 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV2783653 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) SNP Source:
Applera Population(Allele,Count): Caucasian (C,21|T,15) African
American (C,9|T,27) total (C,30|T,42) SNP Type: INTRON SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,63|C,55) SNP Type: INTRON Context (SEQ ID NO: 236):
TTCCATCCTGAATGTTCTGATAGATTTTCTTGGCAGCCTCAAGGAAGGCATCTTCTACATTCTCTCCCCTAAGA-
GGCAATTGATAACTTTATTGGAGAAC Y
ACAGTTTTCTACAAAAGACAAGACACTGACCTTTTGCTAATCTTTAGTTAACTGCCATGATGTCTCCAACTTAA-
CCACTGTCATCTAATAAGAGATTACC Celera SNP ID: hCV15751718 Public SNP
ID: rs2296078 SNP Chromosome Position: 122983705 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 149035 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (C,23|T,15)
African American (C,29|T,9) total (C,52|T,24) SNP Type:
INTRON;PSEUDOGENE SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (C,75|T,45) SNP Type:
INTRON;PSEUDOGENE Context (SEQ ID NO: 237):
TTTAACTGATTATACAATCTTTGATGTACAAAATATTTATAGATCAAATATTTGAAGACAAATACCCATGTCTT-
CAAATTAAATATGAAGGATGAAGATC W
GTTAAATGTTATAGAAGGGAAATATGGTTCATTTCAGCCATTTCCCTTCTTCTTTTTCCAATCTTCCCCATCTC-
TCCTCATTATCTTGAAGAGACTCAAC Celera SNP ID: hCV25472748 Public SNP
ID: rs10760138 SNP Chromosome Position: 122837145 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 2475 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (A,8|T,2)
African American (A,20|T,10) total (A,28|T,12) SNP Type: INTRON SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,32|A,86) SNP Type: INTRON Context (SEQ ID NO: 238):
TTTTGACTTACCAAAGGGCAGACTGAAAGTCAGCTTTGAGGAACTGATAAAATTAATTGGCTCTCTTAGAATCT-
CTTTTATATTTTGAGAAAGGAAGTAA R
TGATTTCATATCAATTTCATAGAATGACTTTTCTTTACAGACAACAAAGGAGGCTTTGAAAATGTTTTAGAAGA-
AATTGCTGAACTTCGACGTGAAGTTT Celera SNP ID: hCV25746749 Public SNP
ID: rs7023214 SNP Chromosome Position: 122948166 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 113496 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,27|G,11) African American (A,13|G,25) total (A,40|G,36) SNP
Type: INTRON SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,50|A,70) SNP Type: INTRON Context (SEQ ID NO: 239):
GAGATTGACAGAAGTCGAGCAGGAGAGAGACCAGCTGGAAATAGTTGCCATGGATGCAGAAAATATGAGGAAGG-
TATGATTTTTTTCCTGCCTATTTTCC K
TAGCTTCATAAGTAGATAATGTCCAAATTAAGTTAGTTGGAGGAGGTAACAGTACATTTTTAAGTGGGAAAAAG-
TATTAGTGGCTATATGGTGATTTTTT Celera SNP ID: hCV25771057 Public SNP
ID: rs10760150 SNP Chromosome Position: 122928063 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 93393 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (G,10|T,24) African American
(G,15|T,11) total (G,25|T,35) SNP Type: INTRON SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (G,47|T,73) SNP Type:
INTRON Context (SEQ ID NO: 240):
AAGTCTAATAATAAGATTGATAGGATTCCTGGGCATAGTAATAAAAAGTTGGCAGTTTAGCTGTTCTGGTAAAT-
TTGGCTTTAGCCACTTTTCTTTGTTC K
CATTTATGAAAAGAGTTGATAAATTATCATTATGAAAAGTAATCTAACATGGAGCTAAAGCTGTTTATTCTAAA-
AATACAATGGAGAGACTCTATAATTG Celera SNP ID: hCV25965958 Public SNP
ID: rs10985153 SNP Chromosome Position: 122898384 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 63714 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (G,0|T,36) African American
(G,5|T,29) total (G,5|T,65) SNP Type: TFBS SYNONYMOUS;INTRON SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,115|G,1) SNP Type: TFBS SYNONYMOUS;INTRON Context (SEQ ID NO:
241):
TGATTTGTAACTTCCTTTAAGTATGTTATGATTTTTAAATTAAATTATACCAATACTAATGTTATATCATTTCA-
GCTCCAAGATATAAGCAAGTTGAAAC Y
GCTTCAAGATTTGATTTCTCTGATCCTAGTTGAAAATCCAGTTGTGACCCTTCCTCATTACCTCCAGTTTACCA-
TTTTCCACCTCCGTTCATTGGAAAGT Celera SNP ID: hCV25968825 Public SNP
ID: rs10818504
SNP Chromosome Position: 122900510 SNP in Genomic Sequence: SEQ ID
NO: 79 SNP Position Genomic: 65840 Related Interrogated SNP:
hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383
(Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51)
Related Interrogated SNP: hCV30167357 (Power=.51) Related
Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) Related Interrogated SNP: hCV3045797 (Power=.51)
Related Interrogated SNP: hCV16234785 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,22|T,16) African American
(C,27|T,11) total (C,49|T,27) SNP Type: MISSENSE MUTATION SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,76|T,44) SNP Type: MISSENSE MUTATION Context (SEQ ID NO: 242):
TATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTC-
ATTCTGGAGGACAGTGGTGTGAGCAA R
TTGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGTATCACTTTTTAATCTAAGAAT-
TGGTCTGACCACATACTTCAAGTAGA Celera SNP ID: hCV25969661 Public SNP
ID: rs10818503 SNP Chromosome Position: 122890591 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 55921 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,28|G,12) African American (A,11|G,25) total (A,39|G,37) SNP
Type: MISSENSE MUTATION;ESE SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: MISSENSE
MUTATION;ESE Context (SEQ ID NO: 243):
AGGCAGGTTCATCCATGCCGTGGTGGTAGTGCTAGGAAATGTTTTTCCAATGAATGGATGAAGTTATGACCACT-
AAGATTCTTGACTAAGAAGACCTAGT M
CAAGTTTCTCACAGTTTTGAGATCTATTATTTATTCATTGGATATATGTGGAGTACCTCCTGTGTATCAAGTAT-
TGTTCTAGGCAGCAGTGAACAGAGTC Celera SNP ID: hCV7577286 Public SNP ID:
rs1407912 SNP Chromosome Position: 122945822 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 111152 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,11|C,29) African American (A,25|C,13) total (A,36|C,42) SNP
Type: INTRON SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (A,50|C,70) SNP Type: INTRON
Context (SEQ ID NO: 244):
AGCTTTGGAGTAGCTAAGTCAGGAGTAAACTCATATCTGACTTCAAAGACAAATCTCTTAACACTTCACAAGGA-
ATCTCCTCTAATAACACAAGGCAAGG Y
ATTGGCAGAGTAAACAAAGAATGTCAAGAACATGAGAAAATTTTAAGACAACTAGATAACATCAAGCTGCTTCC-
CTTGGGTTCTGTGATCATTAGTGCTA Celera SNP ID: hCV782872 Public SNP ID:
rs758958 SNP Chromosome Position: 122864670 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 30000 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: INTRON Context (SEQ ID NO: 245):
AATTTGTACATATGGTAGAAAAAAATGGAATCTTGTTTTAATTTTGAATTTTTATAGTTGTTGGACAGTTGAGT-
ATTGCATATATATTTATTGGCTATTT Y
GTATTTCCTCTTTAAATTGCCAGTTCATATTGGTTTTGCCTATTATCTGTTAGTCCCAAGGACTATTAGATGCC-
TAAAATAATTCTGGGTCTTATTCTAA Celera SNP ID: hCV26144307 Public SNP
ID: rs1016468 SNP Chromosome Position: 122911977 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 77307 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP:
hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,65|C,55) SNP Type: INTRON
Context (SEQ ID NO: 246):
ATAATTGCCAAAAGATACTCTTAAAGTATATTACCTATGAGCTTTGGGAATAATGATCTACTTCATCTCAAGTG-
TCAAAAAAATCATATTAACAGTTCTT Y
TGTCCAGATTTGGCATAGTGAATGGTACCAGAATACAGGTGTTTGCTTTTAGGTCAGTTTGTTCTCTCTTGAAC-
CATATATAAATGAAGTTGACGTGGGA Celera SNP ID: hCV782875 Public SNP ID:
rs746182 SNP Chromosome Position: 122970786 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 136116 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,62|C,58) SNP
Type: INTRONIC INDEL;INTRON Context (SEQ ID NO: 247):
AGGGCCTGGGCAGGCTTCTCAAAATTTTTTTTTAAAACTTAAGACCTGTAGGATGCAAAATAGCCCAGTAGGAG-
GTAGAGGAAGACAGTTCTAGGGAAAG Y
GTGTGAATAAAAGCCTATAGGTGAGAAGAGGCATCACAAATCTGAAGAAATGGGATAACTTTAAGAAAGCTGCA-
GTAGAGTATGCTTGAAGATGAGGCAG Celera SNP ID: hCV1632195 Public SNP ID:
rs1998505 SNP Chromosome Position: 122909336 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 74666 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP;
Celera; HapMap; ABI_Val Population(Allele,Count): Caucasian
(T,47|C,73) SNP Type: INTRON Context (SEQ ID NO: 248):
ATGTGATTGTCTATGACATAAAATCCATTCAGGAGCAAAGCACCCATTGGCATCAGGGAATTCAGTGTCTGGTT-
ATAAGAAGAAAGAGTTTTAGGATCTA S
TTTTGCAATGCTGATTTAAACTGCGACATATCCATAATAGTGGAAAAGGAAGACAATAGGCCATAGTGGTTTTT-
ACACATAGGGCTCAGTGTAAAAAGAT Celera SNP ID: hCV1632205 Public SNP ID:
rs10818509 SNP Chromosome Position: 122926554 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 91884 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: dbSNP; Celera Population(Allele,Count):
Caucasian (G,50|C,70) SNP Type: INTRON Context (SEQ ID NO: 249):
CCATCCCCACCCCAATCCTGGTCCATGGAAACATTGTCTTCCACAAAACCTGTCCCTAGTGCCAAAATGGTTGG-
GGACTGCTGGTCTATGTGATGGTAGC Y
GTCAAGCAAAAATACATAGTGTTTAGAAGCCCCTAAAAGAATATTCTGGAACCACCCTTTATAAAGATTTTGGT-
TCTTATTGACTTATCAGTAGCATAAT Celera SNP ID: hCV2783718 Public SNP ID:
rs10818500 SNP Chromosome Position: 122850704 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 16034 Related
Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV25751916
(Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related
Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783638
(Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related
Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP:
hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783655
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (C,60|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON Context (SEQ ID NO: 250):
ACTCAGCAATAAGAAGGGAATGAAGTATTGATATACACAACATGGATGAATCTCAAAGTAACTACGTTGAGTGA-
AAGAAGCCAGACCAAAAGCAAGTCCA M
ACTGTATGACTCCCTTTATGTACTACAATACATGCTCATGCATGTCTGCTATATGGACAGATCCTACTGTACAC-
ACAATTGTTTTCTACTCTTTCGATTG Celera SNP ID: hCV3045801 Public SNP ID:
rs2057465 SNP Chromosome Position: 122966658 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 131988 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783621 (Power=.51) Related
Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP:
hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51)
Related Interrogated SNP: hCV2783590 (Power=.51) Related
Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP:
hCV2783618 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (A,46|C,72) SNP Type: INTRON
Context (SEQ ID NO: 251):
AGGTTGACCAGGCTAGTCCTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATT-
ACAGGCATGAGCTACCGTGCCTGGCT Y
ATAGAGAGTTTATTTTTATTTTTATTTTCAAGACAGAGTCTTGCTCTGTCGCCCAGTCTGGAGTGCAGTGGCAT-
GATCTCAGTTCACTGCAACCTCCACC Celera SNP ID: hCV3045804 Public SNP ID:
rs2057467 SNP Chromosome Position: 122972543 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 137873 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV30167357
(Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,66|T,26) SNP Type: INTRON
Context (SEQ ID NO: 252):
AAGTTAATTATATATGGTCAGGAAGTAGAGCCACATTATACATTTTAAATAGAGAAGAAACATCAAAAGAAAAC-
ATAATTATTTCAAATATATGAAATGG R
CATTTATTCTTGGAGCAAATATTGTTAGCCTGATATGAGCCTATGTTTTCAGAGTGGCAGCAGTCATTTGATAA-
AGCAATAATTTGCGCTTAGGAGATGG Celera SNP ID: hCV7577287 Public SNP ID:
rs1323478 SNP Chromosome Position: 122943245 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 108575 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP;
HapMap; HGBASE Population(Allele,Count): Caucasian (A,47|G,73) SNP
Type: INTRON Context (SEQ ID NO: 253):
GTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACTCTATTTCTCATTTC-
CATTTCTTTTCTCTGTAATATATAAT Y
GAGTATGATTTTATGTATTTGAGATTTTATGTTTTTCAATCTTAAGTTAACTTCACTTTTTTCATTTGTAGAAT-
AGGAGATATTGTCTACTCTGTCCACC Celera SNP ID: hCV7577311 Public SNP ID:
rs1323473 SNP Chromosome Position: 122866297 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 31627 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51)
Related Interrogated SNP: hCV2783597 (Power=.51) SNP Source: dbSNP;
HapMap; HGBASE Population(Allele,Count): Caucasian (T,32|C,84) SNP
Type: INTRON Context (SEQ ID NO: 254):
ATATAGAGGAGAAAGGCACTGGAGGCTTCGGTGCCAGCAGTTTAAAGACTGACTGGAGAGAGGGCGGAGGTGGA-
GCAAGATGGCTGAATAGAACCCCCCC M
GAGATAGTTCTCCACACAGGAACACCAAATAGAACAACTATCCACGCAAGACAGCACCTTCATAAAAGCCATAA-
AATCAGGTGAGTGATCACAGTGCCTA Celera SNP ID: hCV7577328 Public SNP ID:
rs1323476 SNP Chromosome Position: 122855591 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 20921 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,33|A,87) SNP Type: INTRON Context (SEQ ID NO: 255):
AGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCCAACAAGCTTGGAGGGCACCCACCACC-
CCACCTGGCAGAATTATTCCAGGCTT Y
TGCCAACATTGTGACATTTTAAGAGTCTGGTAAAAGCAGGAAGTTTTTAGTAACAATGGAATTAATTTATCAGC-
AATTAAATCCTTTAAAGCATCTGACA Celera SNP ID: hCV7577331 Public SNP ID:
rs1468673 SNP Chromosome Position: 122849711 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 15041 Related
Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783608
(Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related
Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP:
hCV2783582 (Power=.8) Related Interrogated SNP: hCV2783638
(Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP:
hCV2783604 (Power=.7) Related Interrogated SNP: hCV25751916
(Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP
Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,62|T,58) SNP Type: INTRON
Context (SEQ ID NO: 256):
ATAATGGAAGTGAGTCTATACATGCTTTTGAGTGATTTTTAAAAATTATTTTATTTAAAAACTTACAAATATAA-
ACTGGATTACTAAGTGTATATCACAA R
AGTATCTAATTTGAATAGCGAGAACTACATACGCTATTACATAGGAAAAAAAAGTGTTTTAACCCAAAAGGGCA-
TAGTGATCGACTAATTCAAGTGGCCC Celera SNP ID: hCV7577332 Public SNP ID:
rs1468672 SNP Chromosome Position: 122849558 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 14888 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(G,33|A,87) SNP Type: INTRON Context (SEQ ID NO: 257):
TCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGAAGGCCTCCTCA-
CAGGTCCAAGGGCAATGAGCAACCTC R
AGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTTTCCAAAGTGTA-
CTGCCCGGTGTCTGGCACACGCATGT Celera SNP ID: hCV11720348 Public SNP
ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 146273 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,45|G,73) SNP
Type: UTR3 Context (SEQ ID NO: 258):
TACTCCATCAAACACGTTATTATCCATAAAAAAGACTTCAACATTGTACTGGAAGATCTATTTAAGCATAAATA-
GTACTAAGCACCAATTACTAATCTGA R
GGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTCAAGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATT-
AAAAATTAAAAGGATTTCACATTCTT Celera SNP ID: hCV11720350 Public SNP
ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 146236 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (A,48|G,72) SNP Type:
MICRORNA;UTR3 Context (SEQ ID NO: 259):
TTCTCTAAAATGCCACATGAACCCTCTCTATATTCCCACATGAAGAGGAATGGAAGGTAATTATTTGGTCTTTT-
CTTCTGTTTAGGGGAATGAACTGAAC S
ACTCATTTTTTTAAAATCACACTTAAAAGACACATGGGCAAAAAAGTTCCCCAAAACTACTGTCTTACCGAATT-
TGAGAAGGGAGGTAATGTATGAAGCT Celera SNP ID: hCV11720351 Public SNP
ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 145947 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP:
hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,65|G,55) SNP Type: UTR3
INDEL;UTR3 Context (SEQ ID NO: 260):
GAAGCTGGAGGTTTAGTTTACATTTAGAAAGTTAAGGTGATAGCAGCACTTTCTCTTAGCTACTGCAGCCAAGG-
AAGACTTTTAATCATGTTGACCAGAA M
ATGTAAATGGGGTCAATATTTTTTGCTCAATGAAGAAAAAAGCAGTGATTGAATTCCAGCTGTGGCATCTGCTG-
GCTGAGTGACCGTGGTAAAGTCACTA Celera SNP ID: hCV15755658 Public SNP
ID: rs2300934 SNP Chromosome Position: 122848784 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 14114 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,77|A,43) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
261):
TAAGTGTTTAGGTTACACATTTATGTTGCCAGTCTTGGATTCATCTTATATACTAGGTGGTCTTGTTCTTTGTA-
TTTAGCAGCAAGAACTCACAGTTTTG S
TACATATTTTTTATTTTATTTGTAAATTAAACTTTTTTTTTTTTTTTGAGACGGAGCCTCGCTCTGTCACCCAG-
GCTGGAGTGCAGTGGCGTGATCTTGG Celera SNP ID: hCV16234840 Public SNP
ID: rs2416817 SNP Chromosome Position: 122927237 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 92567 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HGBASE
Population(Allele,Count): Caucasian (G,47|C,73) SNP Type: INTRON
Context (SEQ ID NO: 262):
CTTTGACACTTGACAGTTTTATTATGATGTAGTCAGGTGTGGTTCTCTTTGAGTTTATCATACTTGGAGTTCAT-
TGAGTTTTCTTGAATGTGTGGATTAA Y
GTGTCTCATCACATTTGAAAATTTTGACCATTAGTTCTTCAAATATTTTTTTCTGTCCTTTCCTCTCTCTCTCG-
TCTCCTTCTGGAACTCTCTTCATGCA Celera SNP ID: hCV26144291 Public SNP
ID: rs4570235 SNP Chromosome Position: 122865107 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 30437 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP:
hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,76|C,44) SNP Type:
INTRON Context (SEQ ID NO: 263):
GCCAGCATGCCATCTTCCAGACACCTCCACATGTTCAGCTAATTGGAAGTTCTCTGGACCCTGTCCTTTTGGGG-
TTTTATGGAGGCTTACTTATGTAGGC R
TGATTGCTCACATCATTGGCTACTGGTTATCAAATCAATTTTAGCTGCTCTCCCCTCCTTAAAGGTTGTGGGGT-
TGGGCTTAAAGTCCCAACCCTCTAAA Celera SNP ID: hCV26144296 Public SNP
ID: rs10760143 SNP Chromosome Position: 122883917 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 49247 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP;
Celera; HapMap Population(Allele,Count): Caucasian (G,75|A,43) SNP
Type: INTRON Context (SEQ ID NO: 264):
AGGTATAAGGCAGCAAAACAGTGAAAGTGTGTGATTTCCTTGCCCTTCGTTAGATTCTTTGATTTTTCTTACGA-
CAAGTAATTCCTGCTAATGAGCATGG W
GTTTCTTTCTAAAATTAGATTGTGGTAATGTTTGCACAACTTGGAATATACTAAAAGCCTTTGAATTGTACACT-
TTAAATAGGACATGATATGTGAATTT Celera SNP ID: hCV26144328 Public SNP
ID: rs4836841 SNP Chromosome Position: 122967298 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 132628 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,51|A,69) SNP Type:
UTR3;INTRON Context (SEQ ID NO: 265):
AGTCTTTTGGGTGACCCCACGTGGCCATTCTAGTTTCATCTGTGCTTCCAATCCCCTGATGCCCCACATATACC-
CACCATTTAATTCAAGAAAAAATAAC Y
AAAAAAAAATTATTTAAAGACCACAAGCCCTTAGTGATTTTGCCTTTGCAAATTTGGTAAGGCAATTAGCAGTA-
GGTATAAATTTCATATTTCACTAAGC Celera SNP ID: hCV26144332 Public SNP
ID: rs4837813 SNP Chromosome Position: 122974284 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 139614 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,62|T,58) SNP Type: INTRON Context (SEQ ID NO: 266):
TTTAAGGAGCTTATCCAAATGGTGACAACACAATAGCTACCCATTATTAGCTTCCAACATTTATCAGTTATTGT-
GATAATTAACTTGCTAAATTATCTCT Y
ATCTTGACAACCATGCAGAAGGGTGTTATTACCCTCTGGTTACCAATGAGTAAACTAAGGCTCAGAAAAATGTA-
GTGCTTCAGGGAACACATCTAATAAT Celera SNP ID: hCV29005931 Public SNP
ID: rs6478496 SNP Chromosome Position: 122860313 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 25643 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: INTRON Context (SEQ ID NO: 267):
TATTTAGGACATATTCAGTTTGAAATGTCTGTGAGACAACTAAGTGGAGGTGGCATAGAGTCAGAAATGTGAGT-
CTGGAATTTAAAGAGATCTGGACTAG Y
CATACAAATTTTATGCTCAGTCACATCAGCATAAAAATGACATTAAATTGCATGGGAATCAGCTCACTCAGGCA-
GTGGTTGGGAGACGAAAGAAAAGCAG Celera SNP ID: hCV30059070 Public SNP
ID: rs10156413 SNP Chromosome Position: 122907603 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 72933 Related
Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP:
hCV11266229 (Power=.6) Related Interrogated SNP: hCV11720414
(Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related
Interrogated SNP: hCV2783597 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783621
(Power=.6) Related Interrogated SNP: hCV2783634 (Power=.6) Related
Interrogated SNP: hCV29006006 (Power=.6) Related Interrogated SNP:
hCV7577344 (Power=.6) Related Interrogated SNP: hCV16175379
(Power=.51) Related Interrogated SNP: hCV1761888 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978
(Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51)
Related Interrogated SNP: hCV2783589 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,38|C,70) SNP Type:
INTRON Context (SEQ ID NO: 268):
TGTGAGTTATAGGTCTTTTTGGACATGGAATCCATCTTTTATTACTAAGATAAAATATAATATCTTTATGCTGA-
TTCCCTGGTGCACGTTACTCAGCCCA Y
TGAAAACCTTGGCAAAATGTCAGACCTTAAGACTTTCCACTATCCCAAAACTATGAACTGTAGTTGCCTAGTTT-
TCTCTTTTGCTTATTTATAATGTTAT Celera SNP ID: hCV30041036 Public SNP
ID: rs10156476 SNP Chromosome Position: 122910502 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 75832 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (T,74|C,44) SNP Type:
UTR3;INTRON Context (SEQ ID NO: 269):
ATAGAATGACTAAATGATAAACCTATCAAAAATAGTAACTACAATTATTTTTTAAGAGACAGACCATGTAAAAA-
GATACAAATAGATAAAACAAAAAGTC M
AAATGCAGGAAAAAGTGTAGATGTTTGTTTGGCTTTCTCTGCTTGTTTTTAAAAACTTTTCTTTCTGATAATAG-
TTAAGTTGTTATAAGTCTAAAATAAT Celera SNP ID: hCV29734592 Public SNP
ID: rs10435889 SNP Chromosome Position: 122859566 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 24896 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV29005933
(Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51)
Related Interrogated SNP: hCV30167357 (Power=.51) Related
Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP:
hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,76|C,42) SNP Type: INTRON
Context (SEQ ID NO: 270):
ATTTGTGCAGTATAGAAAATTGACCAAAGAATTAAATTGACAAATAAATTAGAAGTGACTTGGGAAAAACCTTC-
ATCAATCAGAATTCATTAATATGTGT K
ATAAATGCTTTATTTAAAAGTTCTGGTTAAATTACTTATATTCCTAAATACAGTATCATCTATGGGCTCCCATA-
TCCTGCTGGCATAGCTAATCTTTTTA Celera SNP ID: hCV30830458 Public SNP
ID: rs10733651 SNP Chromosome Position: 122898015 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 63345 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,50|T,70) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON Context (SEQ ID NO: 271):
ATGCAGAACTCAGATATGGAGAGTAGACTGTATATTATTATTCAGCATCTTAACTTTCACAAAACAGCATACGT-
GGACAACTCTCCAAGTTAAAAAATAT R
TGTACATGCATGTATAAAGCCTTCTTACTCTTTTTAAAGTCTATGTTGTGTTCCATTAAATGTATTCTTCATAA-
TTTAGTTAGCCTATTCCTATTGATGG Celera SNP ID: hCV30830475 Public SNP
ID: rs10733652 SNP Chromosome Position: 122911520 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 76850 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783621 (Power=.51) Related
Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP:
hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51)
Related Interrogated SNP: hCV2783590 (Power=.51) Related
Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP:
hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,48|A,68) SNP Type: INTRON
Context (SEQ ID NO: 272):
TAAAATGGTGTAGTATTTGCAAGTGACTTTCGTACATCCTCTAGTATACTTTAAAATCATTGCTAGATTACTTA-
TAATACCTAAGACATTGTCAATGCTA R
TAAATATTATATTGTTTAGGAAATAATAATTAAGAAAAAATATCTGTACATGTTCAATACAGATGCAACCATCC-
TTTTAAAAAAATATTTTTAATCCGTG Celera SNP ID: hCV30830474 Public SNP
ID: rs10739590 SNP Chromosome Position: 122911302 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 76632 Related
Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP:
hCV16234795 (Power=.7)
Related Interrogated SNP: hCV25751916 (Power=.7) Related
Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP:
hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783638
(Power=.7) Related Interrogated SNP: hCV2783633 (Power=.7) Related
Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP:
hCV2783608 (Power=.6) Related Interrogated SNP: hCV7577317
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (A,48|G,50) SNP Type: TFBS SYNONYMOUS;INTRON Context (SEQ
ID NO: 273):
AATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATGGGCATTTTTCAGCTTGGTAAA-
ACTCTCAAATGGTTAAACAAACTTGA Y
AGTTCTCGTAAAGCTTCCCCATAAACTTAATTTTGTGTTTGGGTTAGCAAATAATTGAAATGAGGTTTTGACTT-
TCTTTGGACTACACATGGGGGTCCAA Celera SNP ID: hCV30830397 Public SNP
ID: rs10760139 SNP Chromosome Position: 122837512 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 2842 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,33|T,87) SNP Type: INTRON Context (SEQ ID NO: 274):
CCAGATTTTTGCACAAGCCATACTGAACTACTTCATGTTTCCATACTCATGTTTTGTTCCAGCCACACTGAATT-
ACTTAACATTCAGCACATTGCCAAGC Y
CTTTTCCCCCGCTTCCGGGGTTTGCACAAGTTGTTCCCTTTGCCAAGCAAATTCTTCCCCACCTCCCTACTCCT-
TGCCTAAACTCTTCTTTTGGGCGTAG Celera SNP ID: hCV30830427 Public SNP
ID: rs10760142 SNP Chromosome Position: 122875375 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 40705 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) Related
Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP:
hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,77|C,43) SNP Type: INTRON
Context (SEQ ID NO: 275):
TATTTTTTGTCCAAAAGTTTGTAAAGTTTATAATTTTTGTACTGTTTTTAGACTAAATGTACTTATAAGAACAA-
CTGTGTATCATGAAAATCATTTTTGC R
TACACCTAACCTTGCAAATGTAGGACTCTTGATGTTAAGGACTAGTATTGCTCATGCAGACATTTTTTGTTGAG-
ATACTAACTAGTACATTTTACATTTT Celera SNP ID: hCV30830440 Public SNP
ID: rs10760144 SNP Chromosome Position: 122886404 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 51734 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830506 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797
(Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,44|G,76) SNP Type: INTRON
Context (SEQ ID NO: 276):
ATACCTCCTTAGGGCCCTCCATTTTGAGACTCACCGGGCTAAGTGGTCTTTGAGGTCCCTGTCAGCTCTCAGTT-
TATTGAAAAGCCAAATGTTTGTTTGT R
TAAGAGATTGAAAGTGAATTTGAATTTCAAGTATTTTATCTATTTCATACCTCTATTTTCTTCTAAGAAACCTT-
TTTTAAAAAGTAGATTTAATTTTTTT Celera SNP ID: hCV30830486 Public SNP
ID: rs10760149 SNP Chromosome Position: 122925096 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 90426 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,47|A,73) SNP Type: INTRON
Context (SEQ ID NO: 277):
GTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTGTTCCTGAGAAAC-
TCAAGTCACAGCTCAGTGTGTCTTTC Y
TCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGACCAGCTCAAACAC-
CACTCCTCTGTAAAGCTGCTTTCTCT Celera SNP ID: hCV30830540 Public SNP
ID: rs10760154 SNP Chromosome Position: 122988234 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153564 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,75|T,45) SNP Type: INTRON Context (SEQ ID NO: 278):
CTTCAATCTACTTTGCAGCACAGTTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGG-
ACCAAGGATCCATGTTTATCTTTGTA W
ACTGCAGAGTCTAGCATGGTGGCTAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAAT-
GTTTTAACACATATAGAATCCTTTTT Celera SNP ID: hCV30830541 Public SNP
ID: rs10760155 SNP Chromosome Position: 122988499 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153829 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,75|A,45) SNP Type: INTRON Context (SEQ ID NO: 279):
TTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTT-
GTATACTGCAGAGTCTAGCATGGTGG Y
TAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTT-
TTTATTTTTGACTGAAATTTTTATCC Celera SNP ID: hCV30830542 Public SNP
ID: rs10760156 SNP Chromosome Position: 122988522 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153852 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,75|T,41) SNP Type: INTRON Context (SEQ ID NO: 280):
GAAATGGGCAGAAACAACAAATGCAGTAAACTTCAAAGCCAGAAAACAAAAAAACAAATGAACAGAATATTCAA-
AAGTGGAGTGGAGGCCGGGTGTAGCT R
TTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGTCAGGAGTTTGAGACCAGC-
CTGGCTAACATGGCAAAACCCCATCT Celera SNP ID: hCV30830468 Public SNP
ID: rs10818507 SNP Chromosome Position: 122908170 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 73500 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229
(Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51)
Related Interrogated SNP: hCV2783590 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV30830725 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,48|A,68) SNP Type: INTRON
Context (SEQ ID NO: 281):
TCTAAATTCTCTTGTACCTGTAAGTTTATTGAGATAATAAAGGAAATAAACTTTTATGCCTCTCGTTCTGTCAG-
ACTTAGTAGATACTGGATTGGCACTG R
CCACCTCTAGTAAAGATGGCTTTATTAGTAGTTTCCACTTGTTCTTTCACCTAAAGGACCTGCTTCACACCACC-
AAGCATCAGGATGTGTTGCTCAGTGA Celera SNP ID: hCV30830521 Public SNP
ID: rs10818513 SNP Chromosome Position: 122969531 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 134861 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,72|G,48) SNP Type: INTRON
Context (SEQ ID NO: 282):
TGGCAATCACTAATCTACTCCCCATCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAG-
TATGTAAACTTTTGAGATTGGCTTTT K
TACTGGGTATGATGCCCTTGAGAACCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAG-
TAGTACTCCACTATAGAGATGTTCCG Celera SNP ID: hCV30830537 Public SNP
ID: rs10818515 SNP Chromosome Position: 122987782 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 153112
Related Interrogated SNP: hCV29824827 (Power=.6) Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357
(Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51)
Related Interrogated SNP: hCV7577337 (Power=.51) Related
Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP:
hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (T,73|G,45) SNP Type: INTRON Context (SEQ ID NO: 283):
TTATGGAGTTCTTATGATTACTCTTTCTAGGATTACTGTTTCTTGCTTTTCCAACTCTTTTCTTTCTGCTTCAA-
TTATTTTTAAAAGAAGACATGCTAAA R
TCTCTGTTTTTTACAAGAAAAAAAACCAGGTATCACAAAATCTTTGAATTTTTTTTTCCTTCCAAAATAACTGC-
CAAATCTCTCAAAACACTTAGTCTAT Celera SNP ID: hCV30830419 Public SNP
ID: rs10985140 SNP Chromosome Position: 122862658 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 27988 Related
Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV11720413
(Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related
Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP:
hCV2783608 (Power=.7) Related Interrogated SNP: hCV2783638
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783582
(Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP:
hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (G,63|A,57) SNP Type: INTRON Context (SEQ ID NO: 284):
ATATGTTTGTGCTGTCAATAAATGTTTTGTAAACTGTCAGAAGTTTTTGCTTTTTTTTTCTATACCTATTTTTG-
TTAGAAGTCAGACTGTGCTCTTCTCT R
TGTCATTATGTTATTTTTATCATTAACCATTTAAAAACATGTTTATGCCAGGCGCCATCGCTCATGCCTTTAAT-
CCCAACACTTTGGGATGCTGAGGTGC Celera SNP ID: hCV30830473 Public SNP
ID: rs7036649 SNP Chromosome Position: 122910705 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 76035 Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620
(Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)
Related Interrogated SNP: hCV11720414 (Power=.51) Related
Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP:
hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978
(Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51)
Related Interrogated SNP: hCV7577344 (Power=.51) Related
Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP:
hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621
(Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51)
Related Interrogated SNP: hCV2783589 (Power=.51) Related
Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP:
hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,43|G,71) SNP Type:
UTR3;INTRON Context (SEQ ID NO: 285):
AGATAAAATCATACTCATATTTCTCAATTTCTTTCTAATAGTAATTTTCATAGCAAACAAGTATTTTCAATTAT-
CTCCAAATATTTTCACATTAGTACAA Y
TTTATTTTCCAATAAGAATGTGAAAATGGACATGCATTGCTCAAAAAGCAGACATAACTTCTGTTTAGAATTTT-
CTGTTTCTGTTAGAATTTTCACTTAC Celera SNP ID: hCV30830406 Public SNP
ID: rs7040603 SNP Chromosome Position: 122848041 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 13371 Related
Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,33|C,87) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 286):
AGATGAAGTGTAACAACACGTAAAAACAACAACAAACAAACAAACAAACAAACAATGATGTTTTTGATAAACTA-
AATGTGAATTTTGTTGGCTTTATAAA Y
ACCAGAATCTAATTTTTATATATGTTCATTTAAAGCTTTCAAAAGCAAATATTCTATGAATTATATTTTTTAGC-
CAGATGTTTTATAAATGTATAGTATG Celera SNP ID: hCV30830396 Public SNP
ID: rs10739584 SNP Chromosome Position: 122837364 SNP in Genomic
Sequence: SEQ ID NO: 79 SNP Position Genomic: 2694 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,32|T,82) SNP Type: INTRON
Gene Number: 3 Gene Symbol: GSN - 2934 Gene Name: gelsolin
(amyloidosis, Finnish type) Chromosome: 9 OMIM NUMBER: 137350 OMIM
Information: Amyloidosis, Finnish type, 105120 (3) Genomic Sequence
(SEQ ID NO: 80): SNP Information Context (SEQ ID NO: 287):
CTTAAGGAAGCAAAGTGGAGTGTGAACAATAGTTTCCTGAGGAAGTGTTGGGTTTTAATTGTGTTGAGGAGAAG-
AACCATTTCCGGAACTGTGTGTGCCT R
TGATGCCTGCGGAGTTGGCTTGGCACAGCTATTTCCAGACTAATCCTGAGTCCTATTTATAGGCTGAGATGATT-
AGGTTGGCCTGTGTCAGGAGAGGCCC Celera SNP ID: hCV11840638 Public SNP
ID: rs12683459 SNP Chromosome Position: 123088119 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 91045 SNP Source:
Applera Population(Allele,Count): Caucasian (A,7|G,33) African
American (A,10|G,18) total (A,17|G,51) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,89|A,19) SNP Type: INTRON Context (SEQ ID NO: 288):
CACAGCATCTGACTCCAGCTTTGCTCCTGCAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCT-
GCCACATATGGACAGTTCTATGGAGG Y
GACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGTGAGGTTC-
TGGGGCCATTGGTGTGTGTCGTGGGG Celera SNP ID: hCV15974495 Public SNP
ID: rs2304393 SNP Chromosome Position: 123123435 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 126361 SNP Source:
Applera Population(Allele,Count): Caucasian (C,37|T,1) African
American (C,33|T,3) total (C,70|T,4) SNP Type: DONOR SPLICE
SITE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON; SILENT
MUTATION;INTRON SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,115|T,5) SNP Type: DONOR
SPLICE SITE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON;
SILENT MUTATION;INTRON Context (SEQ ID NO: 289):
AAACTTTCACTATTTTCTGATTTGTCATTGAATTCCTTCCCGCAGTGGCGTCAAAAGCCTGGACACCAGCCGGG-
GCCGAGGTCCTGCAGGTATTTGGGGA M
CTCCCCTAGCCCACTGATATCTGCATCATTAGTATTCTTACTATTCTCACCTCTCAGAGATCACAGTAGGTGAA-
GCTCTTCCCATACTTTCTGTCACTGT Celera SNP ID: hCV2644 Public SNP ID:
rs747846 SNP Chromosome Position: 123022431 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 25357 SNP Source:
dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian
(A,35|C,85) SNP Type: INTRON Context (SEQ ID NO: 290):
TCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTT-
TTTTGATTTAGAAAGTGGCTACAGGG K
TCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAG-
CTGTGTGGCCTTGGGCAAATTTTATT Celera SNP ID: hCV578218 Public SNP ID:
rs306784 SNP Chromosome Position: 123112473 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 115399 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,76|T,44) SNP Type: UTR5;INTRON Context (SEQ ID NO: 291):
GTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAG-
GGGACTAGTGTGCCTTTGGGAAACGC Y
GGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATG-
GGATTCAAAGGGGTGGCAGAAAGATG Celera SNP ID: hCV578219 Public SNP ID:
rs306783 SNP Chromosome Position: 123112418 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 115344 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,69|T,51) SNP Type: UTR5;INTRON Context (SEQ ID NO: 292):
TCCCCAAATCGCACATGTGCAGGATGAGAAAGATACAATTTGCAGGCAAAAGACTTAGAAATTTAATTATTAAT-
AATCAGGGTAATAATTAGAGTAAACA Y
ATGCCTTGTGCAAAACCCTGAACATGTTTTATCTCATGGTAGGTTCTAATATTATCCCTCTTTGAACAGCAAAG-
GCAACTGAGACTCCGAGAAGTGATGT Celera SNP ID: hCV578224 Public SNP ID:
rs306781 SNP Chromosome Position: 123082765 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 85691 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,6|T,114) SNP Type: INTRON Context (SEQ ID NO: 293):
CTCAACCTCCCAAAATGCTGGGATTACAAGCATGAGTCACCATGCTGGCCCTGCCTCACTTTTGAGGCTGTTTT-
TCCATCAAACCTGATCACTTTAGGGA R
CAAGGGAGATCAGTTTCTTGCACAACTCCCCGACTACCCTGAGAGGTGGGACTGGAACCCAAGGCTGTGCTGTG-
AGTGTGAGCCGCATTCTCCAGTGGGG Celera SNP ID: hCV1219005 Public SNP ID:
rs10818527 SNP Chromosome Position: 123115075 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 118001 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,110|A,2) SNP Type: UTR5;INTRON Context (SEQ ID NO: 294):
TGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGG-
GGAAAGCAGAAGGGTGGCATGGGCTG S
AACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTT-
TTGCAAAATACTCAAGCTGGAGGCAG Celera SNP ID: hCV1219006 Public SNP ID:
rs11788156 SNP Chromosome Position: 123111661 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 114587 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,116|C,4) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 295):
TATTTTTGCTGTAGAGGGAAACACTATCTCTATCCTCCAAGCCTGCCCTACAAACATCCTTGAAAAGACAGTCT-
AGGACAAAGGGCAGTCAGTGCCTATG Y
TCACAAAATGTACAGAAACATGAGACCCATGGAAGGTCATCTCCCAACAGGGGCAGGATTTTTTGTATTGTAGA-
ATATAGTACTGTATTTGGTGGAGGGA Celera SNP ID: hCV3045812 Public SNP ID:
rs7030849 SNP Chromosome Position: 123009655 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 12581 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,64|T,56) SNP Type: INTRON
Context (SEQ ID NO: 296):
AGTGAAGAACACATCAGTTCCTTCAGAAACCCTGAGGCTTCTCAAAGAAGGCTCTCCTCTGTTCCAGGAGAAGG-
AAGGGACAGATGAGAAGTCACTTCAA S
TTCCCAGAATACTCAGAAGCTGAACTTGTCAAGGTTTAGATGTGGCAAAGCAGGCCAGGCATGGTGACTCATGC-
ATGTAATCCCAGCATTTTGGGAGGCC Celera SNP ID: hCV7577155 Public SNP ID:
rs1560980 SNP Chromosome Position: 123133818 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 136744 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,114|C,6) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;MICRORNA;UTR3;INTRON Context (SEQ ID NO: 297):
GAGGGTGCAATTTTTGGTTCTTCCACATCAGGGTATCCTGATGCTGTGCCTTGGTACGGGGCTTGTCATTGGGC-
AGTCCTGGGAAATGTGCACTTTCCCA K
GATTCTCTCAGCTCTTTGCATTTTTTAGTTTACCCGGCCAGTCCTTGCTAAGCTGCTGCAGTGGAGAGGGAGGT-
GAAGCAGACACCACCGGGCCCTCTGA Celera SNP ID: hCV26144366 Public SNP
ID: rs11787991 SNP Chromosome Position: 123086454 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 89380 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,107|T,3) SNP Type: NONSENSE MUTATION;UTR5;INTRON Context (SEQ ID
NO: 298):
AAACTCCATGGATCATAGAAGTAGAGACTCATGGGTACTTCCTTTCAAGAACCTCCGCTTTCCTTGATGTTTGC-
TTTGTGGCTGAGGAGACAAAGTGGCT S
GATGGCACTCTCAGCTTACAATTCAGAGGAACCATTGTTGAGTCCCCTGATAGAAGTTTTCATCCCTTGGGCTT-
TGTGGTGGATTAAAGACGGCTACAAA Celera SNP ID: hCV28010798 Public SNP
ID: rs4837817 SNP Chromosome Position: 123034984 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 37910 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,18|G,102) SNP Type: INTRON Context (SEQ ID NO: 299):
TGGAGAGAATGAGTACCATTGCTGAAGCCTTGTCACTCCCCCCACCGCACACACACAGCAACATCCTCAACGCC-
CCTTTCTGTTCCATACCTCTGTTCGG Y
TATCCCCGAATTGGCCGGCCAGCCTGAGCTGTCCAGAGCCCTTTCACAGCAGCACTGGGGTGTGTTAAACCCTG-
GGCTCCAGAGGCAAACAGGTCTGGGC Celera SNP ID: hCV29005968 Public SNP
ID: rs7046030 SNP Chromosome Position: 123087058 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 89984 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,28) SNP
Type: UTR5;UTR3;INTRON Context (SEQ ID NO: 300):
CGTAGCCCTGTTCCTTCCTGTGTTCCTGAGCAGGGTGGTGGAGAGCCCACGTGGGTATCATGCCTTTAAAGGAG-
GATGGTGCCCAGGGCAGGGGGTGGGC W
GTAGGGACAGTAGGACCATAGACCCTCTTCTTTGTCAACTCCTGTCCTGAGTCACCCTCTCCCTGGTGTGGGAG-
GCACTAAGAATTCCTGGGGTTTCCTT Celera SNP ID: hCV29005979 Public SNP
ID: rs7039494 SNP Chromosome Position: 123134411 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 137337 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,100|T,12) SNP
Type: INTRON Context (SEQ ID NO: 301):
AGGTCGCCACTGTTAACAATGGTGTGTGCACTCCTGCCAAACACGTTGATTGGATGCCTTCACTTTTAGCCATC-
CAGTGACAGTGGGTCACTTTCCCCTA M
TCCATGTGAATAGTTTGGGTCATTTGTGATGTGGGTCATAGAGATGATTTCTGCTTGGTCTATGGTACGTTGCT-
GAGACACTGAGCTCTGGTTTTCTTTA Celera SNP ID: hCV30830611 Public SNP
ID: rs10985196 SNP Chromosome Position: 123072865 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 75791 SNP Source:
dbSNP Population(Allele,Count): Caucasian (A,32|C,88) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 302):
GCAGCACAATCATGGCTCACTGCAGCCTTATTCTCCTGGGCTCAGGTGATCCTCCTATCTGAGCCTCCAGAGTA-
GCTGGGACCACAGACGCATGCCACTA Y
GCTGGATAATTTTTAAAATTATTTGTTGAGACGGGATCTCCCTATGTTGCCTAGGCTATTCTCGAACTCCTGGG-
TTCAAGTGATCCTCCCACCTCGGCCT Celera SNP ID: hCV30830568 Public SNP
ID: rs12343027 SNP Chromosome Position: 123027074 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 30000 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,7) SNP
Type: INTRON Context (SEQ ID NO: 303):
CCCCCACTACTGTTCTTTTCCTGATCTAGGATCTAACCCAGGATCCCACATGGCATTTACTCATCATGTCTCCA-
AAGTCTCTGAATCTATGGCAGTTGCC Y
GGTCTTTCCTTTTTTTCATGCCCTTAACACTTTTAAAGGGTACTAGTCAGTTATTTTGTAGAATGTCTCTCAAT-
TTGACAACCCCAGACATTTAAAAACA Celera SNP ID: hCV30830652 Public SNP
ID: rs12683989 SNP Chromosome Position: 123125867 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 128793 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,108|T,12) SNP
Type: INTRON Context (SEQ ID NO: 304):
CTTCTTTCTCCTTTTTTGGCTTCCTCAATAGTACTTCCTTCTTTCTCTCTACCAGTTCCTCTGTTCTCTCGTTC-
TTTAGCAGAAGACTTGATGACCTATT W
AATCTAGAGTCTGGATCATCAGCAATTAAAACAAGCCAAAAAAGAAAAAAGATCATTTCCTTTTCCTTAAGCGG-
TCAGGAGCGCTCAGCCTTCAAACTGC Celera SNP ID: hCV30830600 Public SNP
ID: rs4595204 SNP Chromosome Position: 123056182 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 59108 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(T,10|A,110) SNP Type: INTRON Context (SEQ ID NO: 305):
GTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGC-
ACTGTGGCTCATAACTGTAGTCTTAG Y
CACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAA-
TGCACTGCAGCCTGGGACAGAGTGAA Celera SNP ID: hCV30830641 Public SNP
ID: rs4837839 SNP Chromosome Position: 123111948 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 114874 SNP Source:
dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(C,66|T,46) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 306):
GTGCCTGCAGGAAGATGGGACTGACAACTCCCTGGATATCTATCTGTTTGGGCAGCACTGATCTGCTCTGCCCT-
ATTGCTTCCTGCACAAAGGAGAACAC W
GATGGAGAGAGACAGCACTGGAGGGGCTTTGGATGGTGTGGGGAGAACCTTAGATGAAGAGGGGCTGAAGTTGC-
TTCCCCTTATCCCTTCCTCCCACCTT Celera SNP ID: hCV29752541 Public SNP
ID: rs9409230 SNP Chromosome Position: 123007581 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 10507 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,107|T,13) SNP
Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 307):
CTGCCTTCTAGTGGCTCTGTGAGTTGGGCAAACCATTTAACTCCAGTCCGAGCCCAAGTGATTAAAAGTTCATC-
CCATGGCCTAACCACAACCTACCACA Y
TGCGGTTTCCTGGCTTGCCTGAGCTGGGGGGTGGGGGTGCTGCACAGCATCTGACTCCAGCTTTGCTCCTGCAG-
ATCTGGAGAATCGAAGGTTCCAACAA Celera SNP ID: hDV70729405 Public SNP
ID: rs16910509 SNP Chromosome Position: 123123292 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 126218 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,110|T,10) SNP
Type: INTRON Context (SEQ ID NO: 308):
TTGTCCAGTGCTTCGGCCTTGGTCCCAGCGCCTTCCCACGGAGCAGCACTCTTCACCCTGCACAGCCTTGTTAG-
GTAGGTAGAGCAATACAGACACCTGT Y
GTCCTCTTAAACCCCGCCCTGGCTGCCCAGGGAAGCCTGGAGGGGACTTCAGTGGTGGAAGCAGCCGCTGTAGC-
CACAGTGGATTCAGTGGGAGTCCCTG Celera SNP ID: hCV25988184 Public SNP
ID: rs10985200 SNP Chromosome Position: 123083688 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 86614 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: Applera
Population(Allele,Count): Caucasian (C,19|T,13) African American
(C,32|T,4) total (C,51|T,17) SNP Type: ESE;TRANSCRIPTION FACTOR
BINDING SITE;SILENT RARE CODON;SILENT MUTATIO N;INTRON;PSEUDOGENE
SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,60|T,44) SNP Type: ESE;TRANSCRIPTION FACTOR BINDING SITE;SILENT
RARE CODON;SILENT MUTATIO N;INTRON;PSEUDOGENE Context (SEQ ID NO:
309):
GTGCTCGAAAATGGTTAAAAATAATGAAAGCACCTAGGCCACAGCAGAACCTAGTATTCAACCACGGAGGCAAA-
GGCCCAATGTACTGTGGATCAGAAAG R
ATGTTTTTGGCTGTAAGCAGTGGAGGGCTAACTCAAACCAAATTAAACTGTAAGCACACTTATGTGCTCTCATA-
CATAATCAGTTCAGAGTTGAGGGGGA Celera SNP ID: hCV578200 Public SNP ID:
rs767769 SNP Chromosome Position: 123138157 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 141083 Related
Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,75|A,45) SNP
Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 310):
TGCATTCCAGCCTGGGCGATGGAACGAGACTCTGTCTCAAAAAAAAAAGAATTATTTTATAAATAAATACAGAG-
AATTTTTAAGAAGTGAGATTTATGAC R
TGAAGCAACCCTTTTCCTTTTTAAAAAATAGGGTAAAGATTTTAATAACAAAAATGAAAGGCATACTTCAACAA-
GTAAAATATTTAGAGGGGTAAAAATT Celera SNP ID: hCV1219008 Public SNP ID:
rs7028970 SNP Chromosome Position: 123109342 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 112268 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (A,65|G,49) SNP Type:
INTRON Context (SEQ ID NO: 311):
AGTCAGGAGCCCGGAGTCCCTGCCACACCTCTGCCGTGGGATGCTATAAGTTCTGCCCCCTTGCTGAGCCTCAG-
TTTCCTAATCTGTGAATTGATCTGAT K
CTCCCAGTCCTGAGTTTACGCTCAGGAGGGCTGAGAATGAACATAAGGGAATGTGACAGAGCTGGGAGGACGCT-
TAGAGAAAAATGAGGTCCATCGTCCT Celera SNP ID: hCV1219009 Public SNP ID:
rs3747850 SNP Chromosome Position: 123104749 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 107675 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,68|T,52) SNP Type: INTRON Context (SEQ ID NO: 312):
GGCTGGGCAGGCCCAGGCCTGGACTTGGAGCCCGGAGAACTCAGGTATCCCTCTGGGGCCCCCCACAGACACCG-
AGACAAAGTTCAGACTCTTCAGTGTG R
CACACAGGCCTCGGTGACCCCTGCTGCCCTCTGCAGCCTCCTCTGCTCTTGCTCCCTGTGTTTCATACTGGACC-
CCTGGTAATTCACTGGATATGGTTAT Celera SNP ID: hCV1219010 Public SNP ID:
rs7870797 SNP Chromosome Position: 123100243 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 103169 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (G,66|A,48) SNP Type:
INTRON
Context (SEQ ID NO: 313):
TGGTTTATGCTTCCATTAAGAGCCTATGGGAGCTGTGGGGTTTTTTATAATATCATCCTCCAAATGGCTAGGGG-
GAAGGGAGAGCTCTCTGAATTTAGGC Y
AGAGCTGGCCCACTGCAGGCTGGGCAGGCCCAGGCCTGGACTTGGAGCCCGGAGAACTCAGGTATCCCTCTGGG-
GCCCCCCACAGACACCGAGACAAAGT Celera SNP ID: hCV1219011 Public SNP ID:
rs3761856 SNP Chromosome Position: 123100125 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 103051 Related
Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,72|T,48) SNP Type: INTRON Context (SEQ ID NO: 314):
CCACTGGGTTTCATAACTGGCTTCTCTGTTTACTGACCATTGTCCCAATTAGCAAAATCCCTGGTCAGAAGGGC-
GGGTGCTCCTAGGAGGACCCAGAGAA Y
AGCAGTGAGCCAAAAAGTAAATAGACTCCAAGAGAGGGCTTTCCATGAGTGGCTGGCTGCCTGGAAAATCAAGA-
ACAACAGTGTTTGGAGTGAAGAGAAA Celera SNP ID: hCV1219013 Public SNP ID:
rs10760169 SNP Chromosome Position: 123097503 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 100429 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (C,68|T,52) SNP Type:
INTRON Context (SEQ ID NO: 315):
AAGGTTGCTCTCTGTTTTTCTCCCTCTTGGAAAGTCCTTCCTCTGCAGAGCAGGAAGCTGCCTCCTGTGGCTTC-
TCCTGCTCATTCTGGCTTGGGTTGGG R
CATTGTAGACCCTGCCTTCCCCTGCAGCTCTGCAGAGCCTGTGACTCTCCAAAGTCTTCTGCTGGTTCCACGGT-
CCCAGCATCTGCAGCCAGGCCTCCCT Celera SNP ID: hCV1219014 Public SNP ID:
rs4837832 SNP Chromosome Position: 123096249 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 99175 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP Type:
INTRON Context (SEQ ID NO: 316):
TGTGAGAAGCATTGCATTGGGAGCCTTGCCATCAAAGCCCTGAATGAATCCTTTTTGTAACAAATCTGTTGGTA-
AAATATAATGCACTATTTATAAAGAG M
CTGATTATTCCCAAATCAACCATTTGCACACATCTGTGTGTTCATGTGTTAGGTTTTCTTAATACAGGCTACCC-
TTGCACTGTTGTCAGTTGAAGGGAAG Celera SNP ID: hCV1219022 Public SNP ID:
rs880823 SNP Chromosome Position: 123078288 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 81214 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; HGBASE Population(Allele,Count): Caucasian (C,59|A,35) SNP
Type: INTRON Context (SEQ ID NO: 317):
AACTTGGTTCTCCTTCTGGTTTATGTTTTGCACTTGCCCTAAGACCTTGAGGACATCACCTCACTGAGTTTCAT-
TTTTCTCAGCTATACAGTTAGGGCTT Y
AATACCCACTTCACAGAATTCTACAAAGTACCTAACACAATGCTTGGCCAGTGCAATCATGTGGATGCTGGGAA-
TTTGTATTATCTCATCTGACTCCAAA Celera SNP ID: hCV1219023 Public SNP ID:
rs878691 SNP Chromosome Position: 123077428 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 80354 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,68|T,52) SNP Type: INTRON Context (SEQ ID NO: 318):
AGGGGTCGCACCAGTGGGAGTGGATTCGTTTATTCTGCTGAGCTGGCTAAGCAAACAGTCCTGTTATTTTCCAA-
CCTCAATAAGAATATCATCAGAGCCA R
GCTTATTTGCCAAGCAAAGTATATATATTCTACATATGTGAGCCTTCAGGGTGGGGCTTGGCCCTTAATTTCCC-
TGCTACAGAGACTGTGGCTGAGCTGG Celera SNP ID: hCV1219024 Public SNP ID:
rs10760167 SNP Chromosome Position: 123075366 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 78292 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (A,65|G,53) SNP Type:
INTRON Context (SEQ ID NO: 319):
ATAATGTCAGCCTTCCCAGCTCTGATGGCCTCTGAGTTGGAGGGCTTTGTGCTCCCCACATGTACTTGGGTCCG-
GCATGTCTGAGACACAAAGTGAGCCC R
CAGTGGTGCAACTGGTGATTCAGCTACTGTTCTTGAATTTAATCTTTTCGGACTGAATTGATTGCCCCATTTTG-
CAGATAAGGGAGTTGAGGCCTAGGAT Celera SNP ID: hCV1219026 Public SNP ID:
rs963003 SNP Chromosome Position: 123074630 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 77556 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP
Type: INTRON Context (SEQ ID NO: 320):
TGGTGCTAGTTGAGCATTGCTCGCTTGCCCGTCCCATCTGAGCTCTTTGGCCCCAGCCCAGCTCAGGAGCTGCC-
CTGGGTCTCCTCCCCGACCCTAGGCC Y
CTTCAGATCTCCCCTCCGTGCTCCGGGCCTCAGTTTCCTCCAGGGGAAAGCAGAGGGCTTGGTTTGGTGCCTTC-
CTGCGAGGTGAAGCGAGGGGTCCCCC Celera SNP ID: hCV1219027 Public SNP ID:
rs10818524 SNP Chromosome Position: 123070000 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 72926 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (T,68|C,52) SNP Type:
INTRON Context (SEQ ID NO: 321):
CATAACAAAGTATCATGAACTGGGTGGCTTAAAACAACAGAAATGTATTGTCTCACACTCTGGATGCCTGAAAT-
CTGAAATCAAGGTGTCCACAGGACCA Y
ATTCCCTCTGAAGAGGCAATGGAAGGAGCTGTTCTCCAGACCGCACTCCTAGCACCTGGCAGCCACAGGTGTTT-
CTTGGTTTGTGGCTGCCTCACTCTAA Celera SNP ID: hCV1219038 Public SNP ID:
rs10760159 SNP Chromosome Position: 123038163 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 41089 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (C,68|T,52) SNP Type:
INTRON Context (SEQ ID NO: 322):
AAAGAAAATGCTCAAGAAAGAGCATCTTGGCTCTTTTGAAAGGAGTCATCTTTTAGACCTGATCTTGCCCCTTT-
AATTTAGAGACCAAAGCATTATAACT M
AGAGGCTGATACTCTTGAGGAGGTTGAGAGGTAAAGTCCAAGAGACCCAGATAATGAGGACATTATTAGGTAAC-
TAACTATATCACTGTGTACAATGCAA Celera SNP ID: hCV1219040 Public SNP ID:
rs10985188 SNP Chromosome Position: 123039846 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 42772 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (C,68|A,52) SNP Type:
INTRON Context (SEQ ID NO: 323):
AAGAAAGAGAATGTACTGGAAGTATATTGGGTGGCTCCTGGAACCAAAAGAGAACTTCAACAATCAGGCCTCGG-
GAGAGGCAAAAATTCCTGGACATCTC Y
TTAGGGCCTGCTTTCCAGATGATTCTGCGTCAATATCCTTCTGGCCAAGTATCCTTTTTCTCAAGATACAAATT-
CTTGGAAGAGTCAGTTGGGTTAGCTT Celera SNP ID: hCV1219042 Public SNP ID:
rs7865779 SNP Chromosome Position: 123042618 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 45544 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (T,68|C,52) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 324):
ATCACAATGCAAAAGGAGTCCATTGCTCTGCAAGAAGATAAACACCTCTTATTAAACTCGGATACATCATGATT-
TGTAAATATTTGATTCCTGTGAAGGA R
AGAAAAAAGCTAATGCAAGCTGTTTGCTGCTCAGTAAGTGAGGGCTCACTCTCTGGTTATGGAACTGAGCAAAA-
TGCTTATGGCCTCCCCTCTGTCTCCA Celera SNP ID: hCV1219043 Public SNP ID:
rs10760161 SNP Chromosome Position: 123043889 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 46815 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (G,70|A,50) SNP Type:
INTRON Context (SEQ ID NO: 325):
TCATAATTACCATCATTATTATTACTCTAAGGGCCTTTGCAGCTTTAAAATCTAGGATAACATGTCAGAGAAAA-
GCTAAAACAGGGAGGAAACAGAAAAG W
TTCCCTTAATACGGCTTGAATCAGTACTTGCAAGGGAGAGATTTTTCTGGAAGATGGCTTGTGTATTCATCATA-
AGGCCTCATTTAACCTTGGTGACTCA Celera SNP ID: hCV1219044 Public SNP ID:
rs10818517 SNP Chromosome Position: 123044420 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 47346 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (A,70|T,50) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 326):
TTCTTCCATCAGAGGAGATCCTTATCAGCAAGACATTCACTCTGAGGTGAGGATCCAGGACAAACAGGCCTTAC-
CTTACCTAGATCCAATGGGGGGAGAA R
TACAAAGAGGTATCTAGAAAGGAATGAAGACAGGATACCAAGAAGACTTCTAGGCATCCATGAAAGGCAGACTT-
GATATATCCTGCCAGCTATAAAATAC Celera SNP ID: hCV2973085 Public SNP ID:
rs10818523 SNP Chromosome Position: 123067908 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 70834 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (G,68|A,52) SNP Type:
INTRON Context (SEQ ID NO: 327):
GATATCTGATACAAATCTAGAAGATTGCAGAAGCAGACATTTTGAGAAGGTATCTTAGCCTTACTAATTAACGT-
AAATTGATATCAACATCTTGCCTACT Y
GTTAAAAGGCTACTCCAGTTATTGGATTTCTGTGGTGATTGTTTTTTAAAGGTTAGCCTTGACCAATTCTATTA-
CAAGTTTTTTTTTTTTCCCAGCAGCA Celera SNP ID: hCV2973086 Public SNP ID:
rs10513365 SNP Chromosome Position: 123060746 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 63672 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,68|T,52) SNP Type: INTRON
Context (SEQ ID NO: 328):
TGGCAAAAGTAACTTTGATGGTCTTCTATATACAGGAAATAAAGTATTCTAATACTGGACCTCTGTTTACAGAA-
AGAAAGCACTTAACAACCAAAAAGCC R
AAAAAAACCCCTGCACTTACTGCTCAAGTTAAAAGGATTAATAGTGAAAATTTTACTACCGATATTGTGTCTGA-
GATTTGCTTCAAAATAATTTGGCAAG Celera SNP ID: hCV3045810 Public SNP ID:
rs2209076 SNP Chromosome Position: 123001226 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 4152 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)
Related Interrogated SNP: hCV29824827 (Power=.51) Related
Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (A,74|G,46) SNP Type: INTRON
Context (SEQ ID NO: 329):
CATTTTACCCTAACAGGTAGGGTATCTGTTAGCACCATTTTATAAATGAGGCTACTAAGGCACAGAGATGTTAA-
GCAACTTTTCCAAGGTCACACAGCTA R
TAAGTGATTGGACTAGTGTGCAAACCCAGGTGTGAAGGGCCTAGCACAGACCTGGTTCAGAGTAGACATTTGGA-
GGCTCCCTGATCTTTGATCCTCGCTC Celera SNP ID: hCV7577193 Public SNP ID:
rs913763 SNP Chromosome Position: 123107610 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 110536 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
330):
GAGTGTGGCATAATGACACAAGCTAACCATCTGCTGGAAGATATAGCAAATGTGTGAGGGGTCACCTGTTCCTG-
GGAAGATGCCTGGAATCCTCCAGGTG Y
GCAGGTTGTTTGTCACCTGCTCTGGCTTCATTTCTGCTTGTATTTTTATAAATTGTTTTGTAAAAAGTAGATGT-
TATTTTATCCTTCATCTCTTCCCAGA Celera SNP ID: hCV7577235 Public SNP ID:
rs1052508 SNP Chromosome Position: 123007832 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 10758 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,75|C,45) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 331):
AAGCCTTGTTACCCATTCCAGTTTGGCATGTTCTAACACATTTATAATCAGTCTCCTGCATCACAGAAAACTCC-
CTTAACCAGTTCTTTCAGGAAAGGGA S
TTTTTCTAGTTAGATTAACTGATTCTGAACATCACAACAACTTTATTCCCTTTTCCAGGCACTAGGAACTCAAA-
ACTTTTAAGAATGAACTTGGTCCTGA Celera SNP ID: hCV7577248 Public SNP ID:
rs1359086 SNP Chromosome Position: 122997121 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 47 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)
Related Interrogated SNP: hCV29824827 (Power=.51) Related
Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) SNP Source: dbSNP; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,46|G,74) SNP Type: INTRON
Context (SEQ ID NO: 332):
TTGCTCTGCCTCATGGGGAGCCTCTTCACCTCTTGCATTCAGTGCCTGGGTTAAGGGATGAGAACAGTTTTCTT-
CCTGGGCTATAAAGTATCCCTGAAAT Y
GACTCTTCCCAAGAGTGATCCAGAAAGGCTTTAAGCCATGGAGCCTCGCAGGGAACTCCAGTGAAGGGGTCGCA-
CCAGTGGGAGTGGATTCGTTTATTCT Celera SNP ID: hCV8605563 Public SNP ID:
rs10739594 SNP Chromosome Position: 123075201 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 78127 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (T,68|C,52) SNP Type:
INTRON Context (SEQ ID NO: 333):
TCTCCTTTCTGGTTTGGGCAGCAATATTTTTTTCCACTTCCTGTTTTCTGGTGTCTGATTCCTCAATAAACAAG-
GTCATGGTGAGAAATAGCCACATGTA W
ACCTGGGGACTTTCTGCCCTGGTCACCAGTGATTGGACCAGGTGGGCACGTGAGCAAGCTGGGCCAATCAGAGT-
CCTTCTCTGTGTTCTTGAAATTAGGG Celera SNP ID: hCV11266055 Public SNP
ID: rs4837823 SNP Chromosome Position: 123051832 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 54758 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; HGBASE Population(Allele,Count): Caucasian (T,68|A,52) SNP
Type: INTRON Context (SEQ ID NO: 334):
AGGTGACCTGGCCGAATGTACCCATTTTACAGATGGAACCCTGAAGCTCAGAGACTTGTAGGTCCTGGATTTGG-
TTGTACAACCAGTATCTGGTACTGCT Y
GGGCTAGGAAAGAGGCTTCGAGTCAGAGCATCAGGCCCTACCCTGTATTTTGCATATGAAGACACTGAAACCCA-
GAAAGGTACAGTGACTTGCCCAAGGT Celera SNP ID: hCV11493945 Public SNP
ID: rs1865542 SNP Chromosome Position: 123098620 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 101546 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (T,67|C,51) SNP Type:
INTRON Context (SEQ ID NO: 335):
CCTCATTGGCTTTCTCTGTGAATACGATGGAAGATGGCCACCTCAAAATGGCAGCCTTGGCCTTCAGAGATCAT-
TGGTCCTCACAGACCCAGTTAATTAA Y
CATGATTGTCATGTCTCAACTTCCAGCTCCAAATTCTAATAGTCCAGCTTTTTTCTGCCGTCCACTCCTCATGC-
TGTCAACTGTGTTGTGGGGGAAGGTT Celera SNP ID: hCV11840647 Public SNP
ID: rs10985194 SNP Chromosome Position: 123067533 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 70459 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (C,68|T,52) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON;PSEUDOGENE Context (SEQ ID
NO: 336):
GCTGTGCTGGGCATTTTCACAGGAAGCAGAGATTGAGATATCTGGCCCTGCCCTCAGGGAGCTCGAAGTCTAGT-
GTGGGAGATGGTAAACAACCCAGTAA K
GAAATCATTACAAATAACCATCACTTACAAGGGAATTAAGCAGAGTTCTGGAGTGGAGAATAACGAGACAGGGG-
AGCCTATTTCAGCAGAATGGTCCAGA Celera SNP ID: hCV15830840 Public SNP
ID: rs2149805 SNP Chromosome Position: 123061320 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 64246 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,68|G,52) SNP
Type: INTRON Context (SEQ ID NO: 337):
GTAGCTTCCCCTCTCTGGGCCTCAATTTTCCTATCTGGAATGTAGAGAGGTTAGTTGATCTTTTCAGTTCAATT-
TTATTTTTCAGACCAAAGGACCACAG Y
CTTGCAGGGCAGTTCAAGTAGATGGGGCTCTATCTCCTCTTCCGTTCTCTCCCAATAACCACCTCCCCACCAAA-
AGAAAAAACCCATAGCAAAAAAATAT Celera SNP ID: hCV16110109 Public SNP
ID: rs2078141 SNP Chromosome Position: 123013845 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 16771 Related
Interrogated SNP: hCV29824827 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,79|C,41) SNP Type: INTRON
Context (SEQ ID NO: 338):
AAGCACAGGCGCACAGACCCAGACCCCGGCCCCGGCCCGGCCCGGCTGCAGGGCCGGGCTCCCCACATCGACAA-
GGACACCGGAGCTGCCCCGAGACGCC R
AGAGGGCTGCGAAGAGCTGCCTTTGTACTCAGAGCCAGACGCGGCCTACGGGACGGGACCGCCACGTCTGGGGC-
TTGCGGGCTGCAGGGCGGCGCGGCAC Celera SNP ID: hCV16234838 Public SNP
ID: rs2416819 SNP Chromosome Position: 123003235 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 6161 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap; HGBASE Population(Allele,Count): Caucasian (A,48|G,72) SNP
Type: MISSENSE MUTATION;INTRON Context (SEQ ID NO: 339):
CCTGAGACATAGGTGAACTAGGAGCATCTTTTATTCTAATATTTGGTCTTTGACCCCAGCTCCTGACACAGAAC-
TCCTAATTCCTTGGAATTTCCTAGGT R
ATAGGGGTATCTTTGTTTCAATAAGGCAACTCTTATTGGGCTCCCGGATGGGGGCTGGTCACCAGAAAGGCCAA-
GCCACTGTTAGAAGCTTGGCGCTTTC Celera SNP ID: hCV26144347 Public SNP
ID: rs10760158 SNP Chromosome Position: 123028835 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 31761 Related
Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (A,61|G,57) SNP Type:
INTRON Context (SEQ ID NO: 340):
AGGTTTTGTTTGGCTTTTTTAAATATTTGCAGATGGTATAATTCCATCTTGAAAACAAGGGAATCAACTGAAAA-
GCTCTTGGAAACAGGAAACTTCAACC M
AGTATCAAGTTACTAACTGGAAATAAAAATAATGCCATACAGATCAATTAGAAAGAAAGCATAAAAGAACCAAA-
GATGTTATTCAACTTAGCTACAAAGG Celera SNP ID: hCV26144352 Public SNP
ID: rs10760160 SNP Chromosome Position: 123043147 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 46073 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap Population(Allele,Count): Caucasian (A,67|C,51) SNP Type:
INTRON Context (SEQ ID NO: 341):
GCACTTTCCCAGGATTCTCTCAGCTCTTTGCATTTTTTAGTTTACCCGGCCAGTCCTTGCTAAGCTGCTGCAGT-
GGAGAGGGAGGTGAAGCAGACACCAC Y
GGGCCCTCTGAGATCCACTCTAATCCAAGACGGAGACAGTGGAAGTTAACGCCCAGAGTGCTCTGTGATAAGTG-
CCAAGGGGCTCAGGGAGACAAAGAGT Celera SNP ID: hCV26144367 Public SNP
ID: rs3827678 SNP Chromosome Position: 123086543 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 89469 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; HGBASE Population(Allele,Count): Caucasian (C,61|T,49) SNP
Type: UTR5;SILENT MUTATION;INTRON Context (SEQ ID NO: 342):
GGGCCTCAGAGCAGCTCGGCCTCTGATTGAACTTCACTGACCCACAGGGAGCGCCCTTCTCTTGCAGAATGCTT-
TGGCAGAATAGTACACAGGAAGCGTG Y
GGGCTTTTTTTTTCTTTTTTTTTTAAAAACAGCTTTATTGAAATATAATTTACATGATTTATTGGAGTAAATTT-
ACATATAATTTACATACACATAATTC Celera SNP ID: hCV26144368 Public SNP
ID: rs4836845 SNP Chromosome Position: 123089777 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 92703 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera;
HapMap; HGBASE Population(Allele,Count): Caucasian (T,61|C,49) SNP
Type: INTRON Context (SEQ ID NO: 343):
GCCGGGCCCAGAAAGCTGACTCACCCCATCAGCGGCTATCCAAAGGTTCTGCTGACAAAGAGGTAGCCCTAGTG-
CTGCCCTAATAGGAGGACTTGAGGGC Y
GGGTCTTGGCTCTGATGCATCTGCCTTTGAGACTGAGCCCTGATAACTCCAAAAGCCAAGTTGCCTCAATGTAA-
TCTGTCAACAAAAAGAATGTTATGCT Celera SNP ID: hCV27492705 Public SNP
ID: rs3810942 SNP Chromosome Position: 123084816 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 87742 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52) SNP
Type: MISSENSE MUTATION;ESE;UTR5;INTRON;PSEUDOGENE Context (SEQ ID
NO: 344):
TGTATTTTGCATATGAAGACACTGAAACCCAGAAAGGTACAGTGACTTGCCCAAGGTCACCAGGAAGTCAGTGT-
CAGAGCCAGCCCTAGCACTCGGGCCT Y
TTCCTTTCCACCTAGGGGTCCTTCTCTTGTACCTGAATTCCCCCATTCCCTTGAACTCATACATCTTCTTCCAG-
GCTGGAAGCAGAGTAAGACAATGTTG Celera SNP ID: hCV27912354 Public SNP
ID: rs4836847 SNP Chromosome Position: 123098764 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 101690 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (C,67|T,51) SNP Type:
INTRON Context (SEQ ID NO: 345):
TAGCAAGGGCTCCAGGGTCTGTAGTGAGGGCTCCCAGAGGGCAAGGGTGGGGTCTGTTCACCAGCTCTCCTGTG-
CCAAGGGCCTGGGCTCCAGAGCTATA Y
GGCAGGCAAAGCTGCAGGCCCTTTGTGATCATTAACGTGGTCCCTGGGTTGATGGCCAGTGGCCTCTGGGGCCA-
AGGTCAAGCCACAGCAGCCCCTCTAT Celera SNP ID: hCV27912355 Public SNP
ID: rs4837834 SNP Chromosome Position: 123098998 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 101924 Related
Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,67|C,51) SNP
Type: INTRON Context (SEQ ID NO: 346):
AGGCCCCGTGCTGGAAATCTTTCCACTTCCAAAGAGCAAAAGCAAACAGGCTGTGTGACCTTCGGTCAGTCCCC-
TCCCCTCTTTGAGCCTCAGTTTCTCT R
TCTGCAGATTGGGGTTGGATAATGAGCTCTCAGAGGGCCCTTTGGTTTCAAGAGCCATTGAAGATGCTGGAAGG-
AAGCAAGCTGAGGCCCTGGGGACCCT Celera SNP ID: hCV27967328 Public SNP
ID: rs4836848 SNP Chromosome Position: 123103173 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 106099 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP
Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 347):
GGACTTTATCTGGGGCCATAGTGGAGCCATGGTAGGTCTGGGCAGAGGAGTGGCATGGTCTGGGCTTGCTCTAA-
GGAGGATGCATTGTAGGAGGGAGAGG W
TGCAGGAGGATCAGTTAGGAAGGTTCTGCAGTCATGCAGGCAAGAGGTGATGGGGCTATGGACCCAGATGTTGG-
CATTGGGGTGGGGAGAAGGGGGGACA Celera SNP ID: hCV27988905 Public SNP
ID: rs4836843 SNP Chromosome Position: 123081492 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 84418 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,68|A,52) SNP
Type: INTRON Context (SEQ ID NO: 348):
TCTGGTTCCACAAGTCTGGGGTGGGGCCTGAGGCTCTGCATTTCTAGTGATGCTGATGTAGCTGGTCCAGGGAT-
CACACTTTCAGTTGCAAGATTTGAAA W
CAATCTGTTATTAGTGTAGAATCAATACTTATGAGATAAGGGACTTAAGAGGCAAGTCCCTTGTTCAGGGCTAA-
AGACCCAGTGACAGTAATAGGGTCTA Celera SNP ID: hCV28010799 Public SNP
ID: rs4240466 SNP Chromosome Position: 123079555 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 82481 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,66|T,52) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
349):
TAAGGGACTTAAGAGGCAAGTCCCTTGTTCAGGGCTAAAGACCCAGTGACAGTAATAGGGTCTAGCCTGGAGCC-
CAGATCTTTTAATGTCTTGTCTTTGA Y
ATCTGACTTATCTGTCTATTTTATCTGCAGCTATGAGTTTCTAGAATCTGAACAGCCCTTAAAATACTTTGCTG-
CTTAATTATGTAGCAAAGTAGGTTCT Celera SNP ID: hCV28010800 Public SNP
ID: rs4837827 SNP Chromosome Position: 123079692 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 82618 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52) SNP
Type: INTRON Context (SEQ ID NO: 350):
TGTGATGTATGTAAGGCAAGGCTGGGAGAGGTAGTTCCAACTAACTGCCAGCACCTGCTCCTGAGCTCCCACCA-
CCAGCGGGCTTGGGTAGTTTGGGTGT S
GCCCATTCATAACCCCACACATCGCCTGCAGCGCCATCATCTTGACATAGCATTTTCCCTGTGTGTCTGCACAT-
TGTCTTCCCTCTGTATTTGTCTGTTT Celera SNP ID: hCV28032606 Public SNP
ID: rs4837818 SNP Chromosome Position: 123042140 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 45066 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (G,68|C,52) SNP Type:
INTRON;PSEUDOGENE Context (SEQ ID NO: 351):
ACTTCTCTTTAGGATGATTTTAACCTTTCTTCTCCAGACCAGGCTCTGGTCTTTGGCTTTGCACAACCAAAAGA-
CCTTTAGAAAGATTTTTCTCTCCTCT R
AAAGAGCAATTTTCTCCCAAAGATGAATTCTTCTGCTAGCCCTTTTAGCAATGAGCACACGTAGCAATATGTTT-
GTGTCTCCACCACGTTTTATTTCTAA Celera SNP ID: hCV28032607 Public SNP
ID: rs4556152 SNP Chromosome Position: 123056730 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 59656 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (G,67|A,51) SNP Type:
INTRON Context (SEQ ID NO: 352):
TGTACTCATTTAGTAGATGAGAAGAATGAGACATTGAAAACATGCACAGTGGAGGTGGGAATGAAAGCCAGCTC-
TCCAACTCTCCAGTCCTCTTTCCTGT S
ACTGCATCAGGCTGCAGGGTGAAGGGGAGGTCTGGGATACAAAGAGAACTTAGAGGTGGAGCAGTTGGATTCTG-
TGCAGTGCTAGGAGGGAGGAGAGGGG Celera SNP ID: hCV28032608 Public SNP
ID: rs4837835 SNP Chromosome Position: 123100810 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 103736 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HGBASE
Population(Allele,Count): Caucasian (C,68|G,52) SNP Type: INTRON
Context (SEQ ID NO: 353):
CGTTAAAAGGCTACTCCAGTTATTGGATTTCTGTGGTGATTGTTTTTTAAAGGTTAGCCTTGACCAATTCTATT-
ACAAGTTTTTTTTTTTTCCCAGCAGC R
TAAGTGAGCAGAATCAAGAGAAGAGACTGATATTTATTTCAAATAGTAAAAGTAAAAAATATCAATTAGTTTCT-
TCAGAAAGGTTACTTGGAATTTCTTT Celera SNP ID: hCV30830606 Public SNP
ID: rs10739593 SNP Chromosome Position: 123060846 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 63772 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,68|G,52) SNP Type: INTRON
Context (SEQ ID NO: 354):
AGAAGAAATAATATATCTAAGATTTGCCTCAAAATTATCTGAGGGCAGGGAAAGGAAAGGTATGTGAACACGTA-
GATGATTCAGGATGAGTATTTAGTGG M
AATTGTAAAAGCTGGGTGGTGGGCACATTAGGATCATTATACTACTCTTTCTACATTTGAGTGGTTTTAACATT-
TTCCATAATAAAAAAGTTTTTTTTTT Celera SNP ID: hCV30830589 Public SNP
ID: rs10760163 SNP Chromosome Position: 123048273 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 51199 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,68|A,52) SNP Type: INTRON
Context (SEQ ID NO: 355):
GTGGGGTGGGCAGGGGAGAAGCCCTGGTGTCTGGGAAAGAAGGCGAGTAGGTGAGGCTGGTGCTAGATCAAGGA-
AGGCCTTGGAGGCTGTGCTAAGAGGT Y
TGGAAGGTGATGGGGGCTGTTGAAGATTTTTAGGCAGGGAAATGACAGGGTTATGTTTTTAAGAAAGATCATTT-
AGAGGCCATCGTGTAGTGGATGATTA Celera SNP ID: hCV30830591 Public SNP
ID: rs10760164 SNP Chromosome Position: 123050983 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 53909 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,67|T,51) SNP Type: INTRON
Context (SEQ ID NO: 356):
TGTTAGTTCATCTCTTTATTCATTTCATTCATCCATTCATTCATTCAACATTTACTAGTCTCCTAATGTATACC-
AAGTTCTGTGTTGGGCACTGGGAGCA Y
AATAGTGAACAAGACTTGGTCCCTGCCCATGAGGGATTCACTGATAGAGCTAGAAACATAAACAGGTAAGTATA-
CCACAGTGTGATAAGTGTCAGTGCAA Celera SNP ID: hCV30830607 Public SNP
ID: rs10760165 SNP Chromosome Position: 123061075 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 64001 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,68|T,52) SNP Type: INTRON
Context (SEQ ID NO: 357):
ATTCAGCAAACAGGCACGTAGTGAGAGCCCCAGGCTGGGATTGTGAGTGCTGGAATGAAACCCTTCTCTTTATG-
GCTCCATCTGGAGTGTGTGGGTGGTG S
ACTAGAATCAGTGGTTTTGCTGACCTTGTTTTTAAGCTGCTGCAGCCTTAAGGTCCAAAATGGAAAACAGACCA-
ACTTGGAGTTAGCTGGGGCTAATTCT Celera SNP ID: hCV30830616 Public SNP
ID: rs13292100 SNP Chromosome Position: 123080818 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 83744 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,66|C,52) SNP Type: INTRON
Context (SEQ ID NO: 358):
ATATTCTGAAATATTTATAGAAGAAATAATATATCTAAGATTTGCCTCAAAATTATCTGAGGGCAGGGAAAGGA-
AAGGTATGTGAACACGTAGATGATTC R
GGATGAGTATTTAGTGGCAATTGTAAAAGCTGGGTGGTGGGCACATTAGGATCATTATACTACTCTTTCTACAT-
TTGAGTGGTTTTAACATTTTCCATAA Celera SNP ID: hCV30830588 Public SNP
ID: rs4837819 SNP Chromosome Position: 123048255 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 51181 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (A,68|G,52) SNP Type:
INTRON Context (SEQ ID NO: 359):
CCAAAATAGAATAATCAAATCACCAAATCAAATAATCAAATTGACTTAGTTGTTACACTGGGATCCTAATGAAC-
CCCAATGTTAGCCCTACTTGACTCAC R
AGATTCTGGTAATGGGTCACTGATAAAGCCCAGGTAAAGCAACCTCACCCCCCCACCCCACCACCCCCAGTGCC-
CACCACACCCCGCCACTGCAAGGGAG Celera SNP ID: hCV30830590 Public SNP
ID: rs4837820 SNP Chromosome Position: 123049915 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 52841 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP Type:
INTRON Context (SEQ ID NO: 360):
GTACCTAGGGGGTTCCCATGATGACACCAGCCACTGTTGACAGAGCCCTTTATATGCCTGAGGCCTTGACACAG-
AGAATTCATTTAATTTCCCCATAATT M
TTTGAGTGGATATTATCATCAGAGGAAGAAACCAAGGCTCAGAGAGGTTGAGTAACTCAGGGTGTCCTGTCCTT-
CAAGGCCTCTGAGTACAAAAATAGCA Celera SNP ID: hCV30830609 Public SNP
ID: rs4837826 SNP Chromosome Position: 123063950 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 66876 Related
Interrogated SNP: hCV30830641 (Power=.7)
SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,68|A,52) SNP Type: TFBS
SYNONYMOUS;INTRON Context (SEQ ID NO: 361):
AAATGTGATATTTTTCACAATTTGTCTACCACCTGCCATCTTCCAACTTGCTCTGCCATAATCACTGCCCCAGA-
AGGTTTCGTGCTTTTCGGGTGCAGGG R
CACGTTTTGACTTTCTTGGACCCTGAGCACTTTTGCCTTGTGGCTTGTACATTACACACACACATATATTTCAC-
ACACATGTAAGTTAAATATATGTATA Celera SNP ID: hCV29879049 Public SNP
ID: rs9792437 SNP Chromosome Position: 123004722 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 7648 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: INTRON
Context (SEQ ID NO: 362):
TTCTGGCCTATGAGATAACAGGGGATGTAAGGCATGTCATCTTTTCCTTAAGAAAGAGGAAAATTTTCCTATAG-
AAACCCTGCCTGCTCCTGGGCTTCTG S
GTAAATTTTCCTCATCCTTAAGGAAAGGGTGATGTACCTACATCTCTGGCAGGAACATAAAACAGCACAACCCC-
TATGGAGGGTACATTAGTTTCCTATC Celera SNP ID: hCV30830586 Public SNP
ID: rs10760162 SNP Chromosome Position: 123045004 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 47930 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,73|G,47) SNP Type: INTRON
Context (SEQ ID NO: 363):
AGCTCTAGCTATCCTCCTGCCGCGGCATCCCAGCATACTGAGATTACAGGCATGAGCCACTGCACCCGACCCTG-
TTTGTTTTTTTAAGTAAATTTTTGAA Y
TGAAGTATAACATACCTACAGCTGATGTGTTCTTTTTTTTTTTTTGAGATGGATTCTCACTCTTCACCCAGGCT-
GAAGTGCAGTGGCATGATCTCAGTTC Celera SNP ID: hCV30830597 Public SNP
ID: rs4836842 SNP Chromosome Position: 123053254 SNP in Genomic
Sequence: SEQ ID NO: 80 SNP Position Genomic: 56180 Related
Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (C,68|T,52) SNP Type:
INTRON Gene Number: 4 Gene Symbol: LOC392387 - 392387 Gene Name:
similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine
hydrolase ) (AdoHcyase) Chromosome: 9 OMIM NUMBER: OMIM
Information: Genomic Sequence (SEQ ID NO: 81): SNP Information
Context (SEQ ID NO: 364):
TGCATTGATTACAGCCCTGATCTACCAATCTACCTCTCCGTTGCCTCTTCCTAAAAGGATTAAGGATGGCTTTC-
AGAAATATATACAACAGGATAAATTG W
ATTGCCCACATGGCTTTATTACTTCTCATAGGCATGCATCAGCCTTAATACTAGAACTTGTTATTTATGTGTCT-
GTCTCTTACGTCAGATGTTCTCCCTG Celera SNP ID: hCV1917479 Public SNP ID:
rs10984994 SNP Chromosome Position: 122518590 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 5818 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: Applera
Population(Allele,Count): Caucasian (A,25|T,15) African American
(A,17|T,9) total (A,42|T,24) SNP Type: INTERGENIC;UNKNOWN SNP
Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,41|A,79) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 365):
CTAATCCAAACATTCTTCCAGGAAGACACACCAAGGCTCAGAGCAGGAAAGGACTCATTCAAGCTCACATGATA-
ACTTGGCAGCAGAACCAGGCCTGGAA Y
GCATATTTCTTCTTGGTGCTGCATTCCTGATTCAGAAGAGCAGCTCTCCCTGCTAAGCAAACAGCAGGTGGGCG-
GATGTGGTCACTAATCAGTGCACTGG Celera SNP ID: hCV3121928 Public SNP ID:
rs10985009 SNP Chromosome Position: 122532860 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 20088 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: INTRON
Context (SEQ ID NO: 366):
AGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCCCCTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGT-
GACATTCAACCTGAAAGCAAAAGGAG W
CAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGACTTTGAAGTTGGAAAGAAACAGAAAGGAAACCAGAA-
TGGGTGAAGCATATTAAGTGAAGGAG Celera SNP ID: hCV3121936 Public SNP ID:
rs735110 SNP Chromosome Position: 122528761 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 15989 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,41|A,79) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ
ID NO: 367):
AATCAATTAACAAATAAATGGGTAAATAATCAAGATATTTACAGATTAAGCAAGTGCTACGAGGGAGATAAAAA-
TGGTGCTGTGACACAGAATAATATCC Y
CTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAGTCAACTCTACCAAC-
ACTGGAAGGAACAGCAAGTGCAAGAC Celera SNP ID: hCV3121937 Public SNP ID:
rs735109 SNP Chromosome Position: 122528700 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 15928 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,41|T,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 368):
TTTATTGGGTGTGTGCAATGTGTCAGGTGCAGTCTGGAATTTGGAACTGTCACATACTGGCAGCATGACCTCTT-
TAAGAGGCAGGAACTTGTTATCTCTG Y
CATCCGGTCCCATGTTGGGGAACTATCTATGAATCAGCCAAGATGGGTTCCCAGCCCTCCATCCATCTCCCTTC-
AAGGCAAAATGGTCTAATGGGAAAAG Celera SNP ID: hCV3121938 Public SNP ID:
rs747819 SNP Chromosome Position: 122528262 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 15490 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,41|C,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 369):
GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACT-
GATTTCTCACTTTATTAGTCAGCACC K
AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATC-
ATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944 Public SNP ID:
rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 7915 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|T,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 370):
AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGA-
CTGGCACTTTTCCTATTTGCCCCAGA R
CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGG-
CCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945 Public SNP ID:
rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 7745 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE
Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 371):
TTTATTTATCAGATACTAACCAAAGTAAGTGATCTTTCTACTTAAATGCTACTGTATGCTTAAAACTCCAGAGA-
ATCTAATTCATTCTTTTTCTATTATA Y
TTTACTAAAACAAATAAAAATCACCCCAAGTCCCTACTAGTTTTCTCAAATGCTTTCTATACATACATACATAC-
ACACACACACACACACACACACACAC Celera SNP ID: hCV11297574 Public SNP
ID: rs10760113 SNP Chromosome Position: 122513871 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 1099 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (T,42|C,78) SNP Type: INTRON
Context (SEQ ID NO: 372):
CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTA-
TGGCTGCCAGGAGTCCCTTATAGATG R
CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGG-
CTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 10608 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 373):
TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAA-
GGTAGCAGTGGTAGCAGGCTATGGTG R
TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCA-
GTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 10670 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO:
374):
GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCC-
AGGCCTTGCAGGGTTTTGGGGCCTGC R
TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGAC-
GAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246 Public SNP
ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 10717 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO:
375):
ACTTTCACAAGCATGGTCAAGGAAGCCATCTGGGAGAAGGTACACATTGAGCTGAGGCCTGAATGAGAACGAGG-
AGGCAGGCTGGGGAAGACCAGGGAGA S
AGAATGGTAAATGCAAAGTCTCATAGACAGACACAAGCTTCGTATGTGTTTGAGAGGGAGAAAAAAGCTGGAAT-
GGGTAGAATATAGCAAATGAGAGAGA Celera SNP ID: hCV29005915 Public SNP
ID: rs7044106 SNP Chromosome Position: 122533883 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 21111 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,34|G,78) SNP Type: INTRON
Context (SEQ ID NO: 376):
CACACTCATAATGACAGAGCCAGGCTTTAATCGCATGCATTTTGGCGCTGGAAACTATGCTCCAAACACCGCAA-
GAAACTGCCTCACTGTGGGACGTCAC Y
GCACATTTAGGGGCGGACAACAGGTGCAGGAGGTATAAGGTGTAGGAAGGTAGGAACTGATGGGAGGTCACGTA-
AATGACATGAAAGTATTTTGCAAACT Celera SNP ID: hCV30830283 Public SNP
ID: rs10818474 SNP Chromosome Position: 122529785 SNP in Genomic
Sequence: SEQ ID NO: 81 SNP Position Genomic: 17013 Related
Interrogated SNP: hCV1917481 (Power=.6) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,31|T,89) SNP Type:
INTERGENIC;UNKNOWN Gene Number: 5 Gene Symbol: MEGF9 - 1955 Gene
Name: multiple EGF-like-domains 9 Chromosome: 9 OMIM NUMBER: 604268
OMIM Information: Genomic Sequence (SEQ ID NO: 82): SNP Information
Context (SEQ ID NO: 377):
GGCTTCATAATCTAAATTACATAGACCAAAAACAAATCAATAGGAAAAAAGTGAAAGTCACAGAGAAAGACAGA-
TTTTGTTCTCAGTGCAAACTGTTCAA Y
GCCATGCATGCTGACACTAACACATCTTTAAGGACTTTTTGTTCATCTAGAAAGACGTCTTGGAAGAATTAAGC-
TTTGAGGAAGCACTGAAGGAGGACAA Celera SNP ID: hCV1917481 Public SNP ID:
rs10760112 SNP Chromosome Position: 122507391 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 114479 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,42|T,74) SNP Type: INTRON Context (SEQ ID NO: 378):
GACAGAGTGTGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAACAATTTCCAAAATTAAAAAGGAGTAGGAAATA-
TGATATCCTCCTTGTAGTTAACAATG Y
TACTACTTCTCATCTCTTCTTTTTGCTCACATGTATCAAGTAAAAGCACTAGATTATTAAAAATAAATGATAAA-
AATCTAATAAGATCTGTGATAATATG Celera SNP ID: hCV30830255 Public SNP
ID: rs10984984 SNP Chromosome Position: 122503297 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 110385 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,7) SNP
Type: INTRON Context (SEQ ID NO: 379):
TGCATTGATTACAGCCCTGATCTACCAATCTACCTCTCCGTTGCCTCTTCCTAAAAGGATTAAGGATGGCTTTC-
AGAAATATATACAACAGGATAAATTG W
ATTGCCCACATGGCTTTATTACTTCTCATAGGCATGCATCAGCCTTAATACTAGAACTTGTTATTTATGTGTCT-
GTCTCTTACGTCAGATGTTCTCCCTG Celera SNP ID: hCV1917479 Public SNP ID:
rs10984994 SNP Chromosome Position: 122518590 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 125678 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: Applera
Population(Allele,Count): Caucasian (A,25|T,15) African American
(A,17|T,9) total (A,42|T,24) SNP Type: INTERGENIC;UNKNOWN SNP
Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,41|A,79) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 380):
TCAGTAAATTAGATGTTTTTAAATCCTGACATTAAATATAACATATAAAGTAAGAGAATAAAAGTATATAAAAT-
ATTTTGTAAATCTATGACCCTCATCC Y
CCTTTGTTTAAACCAGTATGGTCCTTGAGAGTAGCAGCCTTTTTTTTCCCCTTGCTAAAATAAAATAAACTTCA-
GTTCCACCCTCTGTTGCTTACCTGTT Celera SNP ID: hCV1917502 Public SNP ID:
rs10984974 SNP Chromosome Position: 122461377 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 68465 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: Applera
Population(Allele,Count): Caucasian (C,10|T,14) African American
(C,23|T,11) total (C,33|T,25) SNP Type: UTR3;INTRON SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,42|T,78) SNP Type: UTR3;INTRON Context (SEQ ID NO: 381):
TACTGCTGTAACTGGCAACATGACACAGGATAATTCTAGCTTGACCTGGGCCATTCTGGAAGGATAGGAGGTAG-
CCTTTGCCTCAAGCATATTGTTACTA M
CCTGCACCTTAGAACCACCTATTAGAGAGTTGATCTGTGACAATATGCAAGTCTTTCTGATTACCAATGTGTTA-
CCAGTCTACAGATTATATGACGGAAG Celera SNP ID: hCV25758615 Public SNP
ID: rs7849566 SNP Chromosome Position: 122500590 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 107678 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: Applera
Population(Allele,Count): Caucasian (A,7|C,17) African American
(A,7|C,27) total (A,14|C,44) SNP Type: INTRON SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (A,42|C,78) SNP Type:
INTRON Context (SEQ ID NO: 382):
AAAGGAAAACTTTTGCTGTTTTTATAACTCCCTTTCACCTATAGCATCCAGAACTTTATTCATCAATGCAACTT-
ATACCTATTGATAACTGATTTTTTTT Y
CCCTCTAAAATGAAAAGTTAGAGAAAGGCCTTACTTATAGAGCAGCTGCCTGTAGATGTCACTGCTGAACAAGG-
GCAGCGAAGACATTCTTTAGTGGCAT Celera SNP ID: hCV3121983 Public SNP ID:
rs2416760 SNP Chromosome Position: 122414460 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 21548 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: Applera
Population(Allele,Count): Caucasian (C,23|T,15) African American
(C,13|T,25) total (C,36|T,40) SNP Type: INTRON SNP Source: dbSNP;
Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,43|C,77) SNP Type: INTRON Context (SEQ ID NO: 383):
ACCATCTTTACACTGGTCACATTCAGGTTCCAATTCACTCGATTCTAAAAGAGAGAATGCCAAAATAGTTTAGT-
ACAGTCTGAAGCTACAATTAAAAATG S
AAAACAACTACTAGTCCTTAAAAAGATTTATAATCCCAGAACTTTGGAGGCCAAGGTGGAAGGATCGCTTGAGC-
CCAGGAGTTTGAGACCAGCCTGGGCA Celera SNP ID: hCV3121984 Public SNP ID:
rs991121 SNP Chromosome Position: 122410166 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 17254 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: Applera
Population(Allele,Count): Caucasian (C,15|G,23) African American
(C,26|G,12) total (C,41|G,35) SNP Type: TRANSCRIPTION FACTOR
BINDING SITE;INTRON SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,43|C,75) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 384):
AGAGTTGGTTAAACTACAGCTTTTTACAATTTTCTGGCAGAAGGGACCTTCTTTTAATCCAGAATTGGAATAAT-
TCAACAAGTTTCCTGAAGTCATAAAA M
AGGTAGAAGAAAGAGAGAAGTCTAGTCTAGATTATAGAAAAATATTTACTATACAGGATCATGTACTCAAATAC-
TTTACTCATTAGCATTCTAAACACCC Celera SNP ID: hCV1917497 Public SNP ID:
rs10491784 SNP Chromosome Position: 122472110 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 79198 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (A,42|C,78) SNP Type: INTRON
Context (SEQ ID NO: 385):
TAATCTATCCAACAAAGAACTTCACCCATTTTCACAAGCCTAGGATTGGATCCACAAAAATTACATCATTCCTG-
ATTTCTGAATTGAAAAGGAAAAATAT Y
GTCAAAATCAAGAGTAGGAATACACAATTCAAACCTCTTCATGTACATCGAATGAGTCTTTAAAAAAACCAACA-
AACTGGCTGGGTGTGGTGGCTCACAC Celera SNP ID: hCV1917498 Public SNP ID:
rs920745 SNP Chromosome Position: 122469764 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 76852 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,42|C,78) SNP Type: INTRON
Context (SEQ ID NO: 386):
ATTTATGATAAGTGATATTAATAATCACCAAAACCTGGAAATCACCCAAATGTCCTTCAACTAGTGAATGGATA-
CACTATGGTACATTCTCATAATGGAA Y
ACCATTCATCAATAAAAAGGAATAAACCACTGACATCCAAGAACATGGATGAATCTTAAATGCATTATGCTAAA-
TGAAAGGAGCCAGGGGAAGAGAACAG Celera SNP ID: hCV1917499 Public SNP ID:
rs1867254 SNP Chromosome Position: 122468899 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 75987 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (C,42|T,78) SNP Type:
INTRON Context (SEQ ID NO: 387):
TTTATCGCCTGGCTTCTGAAGAACAATAAAATATAGTGATTTTCACCCTGAAGAAGAATAAGAAACTAAAATCT-
TTGCCAAACTGCTTTAAGTATTTGAA R
ATAGTCACATAAAGTCCCAGAGAAAATCAAATCCTGCACTTTTTCAAACATTCCAAAAGCCAAGAGATGAAAAT-
TTTTTAGCCCTAAAAAAAAGATTTTG Celera SNP ID: hCV1917500 Public SNP ID:
rs4837789 SNP Chromosome Position: 122466077 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 73165 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,42|A,78) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 388):
TTGAACACGGGAGGCGGAGGTTGTAGTGGCAAAAAAGCCTCAAATCAATGTGCAATTGTCTACATATAAAGGCA-
TCCCTGATAACATTTTAAGAACTATA Y
TGAGATTCACGCATTCACTAAGCATACTGCTTTTTGAGATAAAATGCTACCTGATTTCTCTATTCATTTATTAA-
GCACATGTCAAAATATAAATCAGGAA Celera SNP ID: hCV1917505 Public SNP ID:
rs10760110 SNP Chromosome Position: 122452384 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 59472 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (C,41|T,79) SNP Type: INTRON
Context (SEQ ID NO: 389):
AAGCAGTTACCTACTTTTGATCAAGATGGCTACCTTTAAAAAGTCTACTTTCACGGAAAAAAATATTCAAGTGT-
ACCATAAAGGCAATTTAAACTAGAGA Y
TGGTATAATTGCAGGAATAATTGGGGTACAGAGTAAAGTTATCTTAAAATAAAAAAAAGTGAAGTATTGTTCTG-
CTTTCCTACAAAATAGCATAAGAATA Celera SNP ID: hCV1917506 Public SNP ID:
rs10984972 SNP Chromosome Position: 122449685 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 56773 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: INTRON
Context (SEQ ID NO: 390):
GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACT-
GATTTCTCACTTTATTAGTCAGCACC K
AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATC-
ATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944 Public SNP ID:
rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 127775 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|T,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 391):
AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGA-
CTGGCACTTTTCCTATTTGCCCCAGA R
CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGG-
CCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945 Public SNP ID:
rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 127605 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE
Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 392):
TTGAACTCAATAAATATGTATGGAATGAGCATGGTTCCAATGACACATTTTAGCACAAGTTGTTTGCAGTTAAT-
ATGACCATTGATAAGCATTTCTTTGA R
TCATAGTTTCTTCACATGTAGAAACTGGGTAATAATCTGTATCCTACCCTATCCAAACAATTCCAGGAGTATTT-
ATGTTGCCAGTTTTCATCCTCAGTTG Celera SNP ID: hCV3121960 Public SNP ID:
rs966397 SNP Chromosome Position: 122493133 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 100221 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (G,42|A,78) SNP Type:
TFBS SYNONYMOUS;INTRON Context (SEQ ID NO: 393):
CAGACATTTAAAAAGAAATATAAATATTTTATTGAACTCAATAAATATGTATGGAATGAGCATGGTTCCAATGA-
CACATTTTAGCACAAGTTGTTTGCAG Y
TAATATGACCATTGATAAGCATTTCTTTGAGTCATAGTTTCTTCACATGTAGAAACTGGGTAATAATCTGTATC-
CTACCCTATCCAAACAATTCCAGGAG Celera SNP ID: hCV3121961 Public SNP ID:
rs966396 SNP Chromosome Position: 122493102 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 100190 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,42|C,78) SNP Type:
INTRON Context (SEQ ID NO: 394):
TAAAATAAAATCCAGGTATAAATACAAATAAAAATGTACAAGGAACCTATAAGATAGTTACAACCTTTACCATA-
GAGGGTATAAAATAAGAAAATAGAGG Y
ACAGAGAAATTAATTTTCCCAAGGTCAGATGGTCATGACCATCTTTAAGAGCAGTGTGAAGAAAGGACTAGAGA-
AGGTAGACTAGGGCTACAGGTTTATT Celera SNP ID: hCV3121962 Public SNP ID:
rs4837790 SNP Chromosome Position: 122486146 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 93234 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,42|T,78) SNP Type: INTRON
Context (SEQ ID NO: 395):
CCAAGATGCAAGACAAAGTCCGCTTTACTCTTTGCATCCTCTCCTTAAACAAAAGGAAGGAGTCACTTTTGTTG-
CTGCGAGATGCACTGCCTGGGGTTGG S
GGAGGGATGGCACAAGACAAGTTTACTTATATGTGCATTTCTTTTTATAATAAAAATGGGTTATGTGCCTAATG-
AAAAAAAAAAAGAATGCATTTGACTC Celera SNP ID: hCV26144235 Public SNP
ID: rs1886337 SNP Chromosome Position: 122483597 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 90685 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,42|C,78) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 396):
ACAATTTATACTCCCATCAGCAACGGAATAATGGTCTCACTGTTCTATATTCTCGCCAATACTTGACGCTATCA-
GCTTTTACATTTTTGCCAATCTGGCA S
CTTGAAGTAGCATCACAACATGGTTTTAAATTGCATTCTTCTGATTAGTAATGAGATGGAACATCTTTTCACCC-
TTACTGGCCATTTGAGTTTCCTCTTT Celera SNP ID: hCV3121966 Public SNP ID:
rs1158553 SNP Chromosome Position: 122440795 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 47883 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (G,42|C,78) SNP Type:
INTRON Context (SEQ ID NO: 397):
GGGTAGAGTAGTCAGTAGGCAATATTTGGGCATGATCAATTTTACTGGGCAATGCCTATTTTCCAACAGGGTGG-
TAACAATTTATACTCCCATCAGCAAC R
GAATAATGGTCTCACTGTTCTATATTCTCGCCAATACTTGACGCTATCAGCTTTTACATTTTTGCCAATCTGGC-
ACCTTGAAGTAGCATCACAACATGGT Celera SNP ID: hCV3121967 Public SNP ID:
rs1158554 SNP Chromosome Position: 122440719 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 47807 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,42|A,78) SNP Type: INTRON
Context (SEQ ID NO: 398):
CAATTATACCAACCTTTGTAGTATATTAAAAATTGCATACACAATGCATTTAGCACAGTGTCTGGCACATACTC-
AGTACTCAAAAATGAAAGCAACTATG R
ACATGATGACAGTGATCCTAGATCTTAAATATTTTCTGAGAATTCTAAGGAAAGTAGGTTAGAATTCCCAGTTG-
GCAAAGACAGGGAAGACTAAGTTACT Celera SNP ID: hCV3121972 Public SNP ID:
rs7357638 SNP Chromosome Position: 122429025 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 36113 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (G,42|A,78) SNP Type: INTRON
Context (SEQ ID NO: 399):
AAAGAAAAAAAAAAGGCTGTGAACAGACCACTTATGCTTATCCATAGATTTGAAATGAAAGAACCAAAACCCAC-
AGCTTCATAACTGGAGAATAAATGTG K
AGAACTGGATTTTAAATAGAAATCAGACATCTGTACTATGAGATCAGCTAACAATTTAAGATAAAATTTGCTTA-
TCTGGTCTTAATGACATGTTGCTAGT Celera SNP ID: hCV3121975 Public SNP ID:
rs1981021 SNP Chromosome Position: 122428214 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 35302 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,42|G,78) SNP Type:
INTRON Context (SEQ ID NO: 400):
ATCACTTTCCTCTCTTTTTAGATCTCCAATTACATTTATGCTAAACCTTTTGGCTGTGTCCCACATCTTCCCTG-
CTCTGTTCTTTCCATTATATTTTCTC Y
AAATGCTTCAGTTTGGATATTTTTAATTGTACTGTATTCAAGTCTTCTAACTTTGTCTTCACTGTGTACAATCT-
ACTGTTAGATTAATGCAATGAGTTAT Celera SNP ID: hCV3121979 Public SNP ID:
rs3903886 SNP Chromosome Position: 122423467 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 30555 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HGBASE
Population(Allele,Count): Caucasian (C,79|T,41) SNP Type:
INTRON;INTERGENIC;UNKNOWN Context (SEQ ID NO: 401):
GAGCCGAGATCGTGCCATGTACTCCAGCCTGGTGACAGAGCAAGACTCGGTCTCAAAAAAAAAAAAAAGATTTT-
TAGTACTTCTCTTTGTAATCTTTCCT Y
ATTTACAGGGGTTTGGCTTTTGTTTTTTAACTAGTCTAATTATATGGCATAAGTTATTTTATACCTTGCTTCTT-
TCACTTTCTCATATTGCTATATATCA Celera SNP ID: hCV3121981 Public SNP ID:
rs10739570 SNP Chromosome Position: 122421043 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 28131 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (C,41|T,79) SNP Type: INTRON
Context (SEQ ID NO: 402):
ATTAAAATTTAAAAACCACACTAAGCGCACTAAGCAAATGGATACAGAGTACACTAACCAGATGGATATAAACA-
TGAGGTAAAAATTAAAATGTGGATTG Y
GAGGGTATAGGGGAATTTTACACTCTGCTTGTCTCTGTGGAGGGAGGGGGGTAAAACAGGACTACGGAGGAAAA-
GAGGACCTCAACTTTATTGAAATTTT Celera SNP ID: hCV3121982 Public SNP ID:
rs7861679 SNP Chromosome Position: 122415410 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 22498 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (C,43|T,77) SNP Type: INTRON
Context (SEQ ID NO: 403):
AGCTACTTTATAATTTAGGTATTATACTTTGTATTTCTAATGGCAGCATAGTTTGGTGGAAGGACTAAAGGCTT-
TGGAATCAAATAGAAGTGTGTGGCTA S
AGATAAGTAAATTTTTTTAAAGCTCGGTTTCCTTATCTGTAAAATGTGAATAATAACATCAACTTTGCTGAGTT-
CTTGGGAAGGATTAAATGAAATAATA Celera SNP ID: hCV3121985 Public SNP ID:
rs959558 SNP Chromosome Position: 122408732 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 15820 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,43|G,77) SNP Type: INTRON
Context (SEQ ID NO: 404):
GTGCTTATGCCTAGCATTACAACTTGACTTTAAATCATTTAGCTTTTGGACTAACTTAGATCTGAAGCCCTGGG-
CTTACTTTCTAGGGCTGCTGCTGCAG Y
AACAAGTAACAATTCCTACCCACATAGCCCAAAATATAGGAACCAGGGATGTTCATTATAAGTGGTGTTATGTT-
CACCAAGCATCCTAAAAAGTGTAGGA Celera SNP ID: hCV3121987 Public SNP ID:
rs10616 SNP Chromosome Position: 122403354 SNP in Genomic Sequence:
SEQ ID NO: 82 SNP Position Genomic: 10442 Related Interrogated SNP:
hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588
(Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,41|C,79)
SNP Type: UTR3;TFBS SYNONYMOUS Context (SEQ ID NO: 405):
ATAAATCTTAACCAGAATTAATTATCTTACTCTGAACACCCTTATCTTCCCACTGAATAGAATACAAGAATTAA-
AAAGGTCCTCACAGAGAACATTTAAC K
AAACTTCTTGGATTTACCAGTGGAAAAACTGAGATCCAGATGGATTCAGCGGCCTGCCCAAGTTCACTCTACAA-
GTGCATAACAGAGCAAGAATAGACCC Celera SNP ID: hCV3121993 Public SNP ID:
rs7042649 SNP Chromosome Position: 122392924 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 12 Related
Interrogated SNP: hCV22272588 (Power=.6) Related Interrogated SNP:
hCV1917481 (Power=.51) SNP Source: dbSNP; Celera
Population(Allele,Count): Caucasian (G,43|T,77) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ
ID NO: 406):
TGAAGTTCTAATGGATAAACTTTCAATACTAACCAAGTTCACTGGTTATTTATTATTTCTATAGTCAGTCTAAT-
ATCTTCATTATTCCCTGAACATACTC Y
GGTTAGTCCTGTCTCTGAACCTTTGCTTATTCTGTACATCTTGGAATGCTCTTTTTCACATATTCAAACCTATT-
CTCTATTTTAAGAATCAGCTGAAACT Celera SNP ID: hCV7577356 Public SNP ID:
rs1530370 SNP Chromosome Position: 122464373 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 71461 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,42|T,78) SNP Type: INTRON
Context (SEQ ID NO: 407):
TAAAGGCTCCCTGTGACCTGACCCCAACAGGACTTACCAGACTCATCTCCTGTCCCCACTCCTCTTCCACTTGA-
CATCTTCAGTAAGCCCATCTCTGAGA Y
GTTAATCTTGCTGTTTGCTGTCTGTAAAGTCCTTTCTCATCTTTTTTCACTTCTGTATGTCTAAATCCTTTCCT-
TCCTTCAAAGCTGGGATCAAAAGCTA Celera SNP ID: hCV7577357 Public SNP ID:
rs1547267 SNP Chromosome Position: 122448557 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 55645 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,41|C,79) SNP Type:
INTRON Context (SEQ ID NO: 408):
TTGTAGCCCAGGTCTGATTTCTAGATTTATATTTCCATAGGCCAGTACCTAAACTGATGAGTCATACTCACCCA-
CAGCTAGCCTTGCACTTACATTGAGA Y
GCTCACACTGCCATATCTAATTTTGCCTATTCTATTTCAGGGTACAGTGGGAAGAGACTTGGAGCCGGACAGAT-
CTGGGCTCAAATCTAAGTTCTGCCAT Celera SNP ID: hCV7577359 Public SNP ID:
rs1324473 SNP Chromosome Position: 122444431 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 51519 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (T,42|C,78) SNP Type:
INTRON Context (SEQ ID NO: 409):
AGTCTACATCTCTGTCCTAAATTCCAAACTATATACTAACTTCCTGTACACCTGGATCCACAAACATCTCAAAC-
TTAACATGTACAACACTGTCCTCAGT R
TCTTCCCTTCCTGAGTCCTGTCTTCCTCCAATGTTCCCTAGATCTCAGTGAATGGTACCAACATCTACCCACTT-
GCATAAGCCAAAACACTGAGAATCAT Celera SNP ID: hCV7577376 Public SNP ID:
rs1359329 SNP Chromosome Position: 122410806 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 17894 Related
Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,26|G,94) SNP Type: INTRON Context (SEQ ID NO: 410):
TAAAATATTGTTTTAACAAAAACTTCCTCCATCCCTCCCAAACTTAAATGTGGGTACTCTGCAGACTTCTATTC-
TTGGTTTCTTTCTCTTCTCTGCTCAT Y
TTCCATGGGTGGCCTCATCCACTGACATCATCAACAATTCCAATATGTGTATGTGTATCTCTAGTCTACATCTC-
TGTCCTAAATTCCAAACTATATACTA Celera SNP ID: hCV7577377 Public SNP ID:
rs1359328 SNP Chromosome Position: 122410643 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 17731 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,38|C,82) SNP Type: INTRON
Context (SEQ ID NO: 411):
TTTATTTATCAGATACTAACCAAAGTAAGTGATCTTTCTACTTAAATGCTACTGTATGCTTAAAACTCCAGAGA-
ATCTAATTCATTCTTTTTCTATTATA Y
TTTACTAAAACAAATAAAAATCACCCCAAGTCCCTACTAGTTTTCTCAAATGCTTTCTATACATACATACATAC-
ACACACACACACACACACACACACAC Celera SNP ID: hCV11297574 Public SNP
ID: rs10760113 SNP Chromosome Position: 122513871 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 120959 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (T,42|C,78) SNP Type: INTRON
Context (SEQ ID NO: 412):
CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTA-
TGGCTGCCAGGAGTCCCTTATAGATG R
CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGG-
CTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 130468 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 413):
TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAA-
GGTAGCAGTGGTAGCAGGCTATGGTG R
TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCA-
GTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 130530 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO:
414):
GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCC-
AGGCCTTGCAGGGTTTTGGGGCCTGC R
TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGAC-
GAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246 Public SNP
ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 130577 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO: 415):
TGAACCACTTGCAATCAGTGAAGACGTCTTTTTCTTTATACAAATTTCTACTCACTCTTCAATATCAATCCAAA-
TGCAACTGCCTCTCTTAAGATCTCCC Y
GAATGTTTGCAAGTCTATCTTTGCAAGTCCACTAGCCAGTAAGTTCCTTGAGAATAGAGGTAATATCTTTTGAC-
ATATGGTTGGCAAATGCAATGTCTTT Celera SNP ID: hCV27912345 Public SNP
ID: rs4142158 SNP Chromosome Position: 122450640 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 57728 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,41|T,79) SNP Type: INTRON
Context (SEQ ID NO: 416):
AGAGATAAAAAAAAAAAAAAAGAACACCAGGAGGCTATGATCATATTTAATATTTTATCTCAAAAATGAAAACA-
ATCCAAAGCAAATACAGGAGAAAATT S
AGATATTACAAAGCTGGGAGGCAGGTATACAGGGGATGTTCACTATATTACTTTTTATACTTTTCAGAAAACTT-
ATTTCATATTTTTTAAAATGAAGAAT Celera SNP ID: hCV30419540 Public SNP
ID: rs10491783 SNP Chromosome Position: 122489976 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 97064 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,42|C,78) SNP Type: INTRON
Context (SEQ ID NO: 417):
AATTGCATCAATAAACAAAACGGCATGAAATTTCAAGGGTTTCTCAGAACCTCTGAAGCCTATGTAAAATTGAC-
ACCTCTCTTGAATAAGAAATATTATC S
TATCCACTGAATAGAAGTTTTGTTGCCATACTTCAACAAATAAGTTCACATACCAACTCTTGTATTGTCAACTA-
CCTTTTGTACATAAACCATCACTTAC Celera SNP ID: hCV30830175 Public SNP
ID: rs10739569 SNP Chromosome Position: 122400848 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 7936 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) SNP Source: dbSNP Population(Allele,Count):
Caucasian (G,42|C,76) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID
NO: 418):
CAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAACGCAGGAGGATCGCTTGAGCCCA-
GGAGTTCAAGACCAGCCTGGGTATAC R
GTGCGACTCTGTCTCAAAATAAAATAAAATAATGAATAAAATAAAGGTTAAAGTGAACTGCCTAAAGTTACATG-
ATTACCTAAAAATACCCACCATGATT Celera SNP ID: hCV30830228 Public SNP
ID: rs7024046 SNP Chromosome Position: 122458999 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 66087 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,42|A,78) SNP Type: INTRON
Context (SEQ ID NO: 419):
GAGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAGATAATGCCAAAGAGATTCTTACACTAGGAAAGAAGTAA-
ATATTTCAATACGAAGAAATGAAATT S
AGGTTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCA-
GAAGTTCAAGACCAACCTGGCCAACA Celera SNP ID: hCV30830259 Public SNP
ID: rs7044226 SNP Chromosome Position: 122506149 SNP in Genomic
Sequence: SEQ ID NO: 82 SNP Position Genomic: 113237 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,41|C,73) SNP Type: INTRON
Gene Number: 6 Gene Symbol: PHF19 - 26147 Gene Name: PHD finger
protein 19 Chromosome: 9 OMIM NUMBER: OMIM Information: Genomic
Sequence (SEQ ID NO: 83): SNP Information Context (SEQ ID NO: 420):
ACCTGCCCATCCTCCCTCCTGGGGTATGAATTCTCAAGGGGATGACTCATGTCCTAAGTACCTTCCTAAGTCAA-
TATACAACCAGATTTGATCATCATCA
M
AGGTGGGCTTGGGGTTCATGGTCAAGGGCAGATGCCAGGAGTAAGAGATGGAAGGACAGAAGGAAGAAATGAAG-
GCAGCAGAGGAGAGAAGACCTGGGGA Celera SNP ID: hCV25751916 Public SNP
ID: rs10985070 SNP Chromosome Position: 122675942 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 28190 SNP Source:
Applera Population(Allele,Count): Caucasian (A,17|C,19) African
American (A,10|C,22) total (A,27|C,41) SNP Type: TRANSCRIPTION
FACTOR BINDING SITE;UTR3;INTRON SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (C,64|A,56) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON Context (SEQ ID NO:
421):
AAACCTACATGGCCGAAATAGCCCCAAACAACAAATTGCGTAGAGACACAGTGCACAGAAATACATGGTACAAT-
CGCAAATATATACCACACGCACAACA Y
GTCATGTAAATAAAGGGCACACAATGAAAGACAACATGCACAGAGTCATAGGAATGGCAGATGGAGTCAGTGGG-
CAGAGCTCCAATCATAGGGACCCTGC Celera SNP ID: hCV1761888 Public SNP ID:
rs1953126 SNP Chromosome Position: 122680321 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 32569 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,52|C,68) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID
NO: 422):
CTCACCTCTGAGGCTACAGGCCAGCTCCACCCATTACTGGCCATGGGAGCCTGAGTGTGTCACTTCTTTCTTTC-
TTTTTTTTTTAAACAATTCTTGCTCC M
GAGACTTTAAGTCTTAAGCCTCCGTGTCCTCACCTAAATAGAGTTATTGGGAAGGTTAGAGTTAATGTATGCAA-
AGCCCCTGGTGCCCAGTAGGTGTGCA Celera SNP ID: hCV1761891 Public SNP ID:
rs1930778 SNP Chromosome Position: 122681190 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 33438 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,42|C,60) SNP Type: INTRON Context (SEQ ID NO: 423):
GATGGGCACGGAGTCGAGTCTGTCAATATAGGGGGGTGGGGGGTGAGGATGTCGCACAGTTGGGACCCTCAAAT-
ACCTATGGAGATATGAACTGGTAAAA Y
GATTTTGGAGAACAGTTTGGCAACTTGTAAGAAAGTGGAAGATACTCATAGCTACAATTCAATGACTCCACTCG-
TCATTCAGCGCATAATTGTGAAAATT Celera SNP ID: hCV1761894 Public SNP ID:
rs1609810 SNP Chromosome Position: 122682172 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 34420 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,45|T,57) SNP
Type: INTRON Context (SEQ ID NO: 424):
CAGAGATGTATGCCATGCCACTTTTGTCAGGTCCCCAGCAGTCCTCTTGAGTTTTTTAATTGCCAAAATTTATT-
TTAAAATCCTTCTGTTTGAGTGTTCC R
TGACATGTGACCTTCTTATGAGTTTCAGAGGTAATCCCTGCCTGGGTGGAGGAATACCTAAGTGACCTTCAGGA-
CCTCTTTCAGCTTGGAGAAGCGGAAA Celera SNP ID: hCV2783582 Public SNP ID:
rs10818482 SNP Chromosome Position: 122687906 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 40154 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,64|G,56) SNP Type: INTRON Context (SEQ ID NO: 425):
GATGGAGACCAAGGGCCTTGTATCAGTTGGAATTCTTGATTATGAGCAACCAGGACCAACTCTGTCCATCCAAA-
GCAAAAGGGGGACTTTCTGGAGGGTA S
TGAAGGTACACAGAATGAACAAGAGGCTGGAGAACAGGCTTGGACAAAGGGCAGGACCAAGAGAGGAATTCTGG-
CCAAGGGAAGGCTGCAGGCACAGTCT Celera SNP ID: hCV2783586 Public SNP ID:
rs2270231 SNP Chromosome Position: 122690803 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 43051 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,52|G,68) SNP Type: INTRON Context (SEQ ID NO: 426):
GCAGGAGGACTCGCTCCTAATTCCTTCCTGGTTCCGAGTCAAAGGATGAGGCCCTGAATCTGTTAAAGAGAAAC-
CACAGCTTTCAGATAACAGACAAACA Y
GTCTTTAACACACGCAATCTTTGATTCAAATGATTTCAAAGGGCATGGGGGAGGGAAGGGTTTTTGTGAGCTTT-
AACCGAAGCCGCTCATCAGAATGTCA Celera SNP ID: hCV2783589 Public SNP ID:
rs881375 SNP Chromosome Position: 122692719 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 44967 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,52|C,68) SNP Type: UTR3;INTRON Context (SEQ ID NO: 427):
GACAATAGCCCTGCCATTTCCTAGCGACTGGGACCTTAGCCAAGCTGACTAACCTCTCTTAGCCTCAGTTTCCT-
CGTCTGTACAATGGGGACAATCTCAG Y
GCCACCTTATCAGAGTTGCTGGGAGGATTGAGTAAGATGATGTAAAGTGCCTAGCATGTAACAGGCACTTAATA-
AGTGGCAGCTGTGATTATTTCAACAC Celera SNP ID: hCV2783590 Public SNP ID:
rs6478486 SNP Chromosome Position: 122695150 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 47398 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,52|C,68) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 428):
AAACTGAGGCTCAGGGAGTCTACAAATCCTGGCCAAGGACAGTGGCAGAGGCGCTATCTGTCTCCAAAGCCCAG-
GTGTGGCCCTTCTGCTTGGAGCTCAG R
CTCTGTGATGGGAGTCTCTGGTCTGCCCCACTGGAGGAGGCAGGAGAGGCAGGGACTGGGGAGGATGGAAGGCT-
CACCCGCACAGCCAGTGCGAAGATGC Celera SNP ID: hCV8780517 Public SNP ID:
rs1056567 SNP Chromosome Position: 122671866 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 24114 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,43|G,77) SNP
Type: ESE;UTR3;SILENT MUTATION;INTRON Context (SEQ ID NO: 429):
TGTGCTATCTTCCCAGGTGGTGCAGACACCCCCTCCCTCCTTTTCCCTCTCCAGGCCCACAGCCTCCCCAGAGC-
CCAGGTAGGGAAGGTCCAGATGTACT R
TAACAGGATTGCTCATCCCAGGCTATCTCAGAAGTCTGGAAAGCAGGCCTAGAAGGTTGCTGGGCTCTCTGAAG-
CCAGGCAGGAAGCTACAAATTGGATC Celera SNP ID: hCV8780962 Public SNP ID:
rs1837 SNP Chromosome Position: 122658050 SNP in Genomic Sequence:
SEQ ID NO: 83 SNP Position Genomic: 10298 SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,39|G,81) SNP Type: MICRORNA;UTR3 Context (SEQ ID NO: 430):
CACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTTGGAAAAAAAAAAAAAAAAACAAAGCAGGAGAGG-
TCTGGCCAAAGTCCTGCAGGAAAGAC K
CATTCAAGATGAAGTAGTAAATCAGCACATGAGCCATAAGTGGGTCCAGGCCTCTGCCCCTCCCTTGCCCAGAG-
ATGTATGCCATGCCACTTTTGTCAGG Celera SNP ID: hCV11266268 Public SNP
ID: rs10760121 SNP Chromosome Position: 122687736 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 39984 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,52|T,68) SNP Type: INTRON Context (SEQ ID NO: 431):
CACAAAATCTCCCAATCCTGGAGAGCACATTTTCAAGTCCCAAAGGGGCCCTAGGATTGTGCTACTTAACCATG-
TTCTGCCAAGAGAAGGTGTGTCCAAC R
CGGGTAGGGCTGATGATGGGAGCAGAACACTCCCACTAGCTTCTAAGCTGGCTGGGTCTGCCTTCAGGATGCTG-
GGGGACAGAGATGATAGAGCGAAGTG Celera SNP ID: hCV11720421 Public SNP
ID: rs1930777 SNP Chromosome Position: 122680989 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 33237 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 432):
CCACTAGCCAGGCAGGATAAGATGCCATGGAAGGATTTAGCTCCACTAGGATTTCACAGTGATGGTGGCCTTGG-
GAGGTGGGTGCTAGTTTTATCCTTCC Y
CAAAATGGGGAGCTCCTCCAAAAAGGAACCAGAATTTTAAGGTGGGGGTGGATGCTGGACAGATCATAAGTGAC-
AGCTAAACCTCTTGGAGCTATTGCCC Celera SNP ID: hCV15870898 Public SNP
ID: rs2072438 SNP Chromosome Position: 122691122 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 43370 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,64|C,56) SNP Type: INTRON Context (SEQ ID NO: 433):
GCTGCATTGACTATTTGCGAGATATTTTGTCTTCTTGTTTTTTATCAATTAGGTCTACATACTACATTCAATTA-
GAGATTTTGATTGATATGATTAAAAC W
GTGTGATCATAAAAGACTGACTCAGATATAGTTAATTAAAGATACCTTTAAAGTTTTCCCCACGTTAAAATACA-
GAGGTGTCATTTTATTAATGAACTCC Celera SNP ID: hCV29006006 Public SNP
ID: rs7034390 SNP Chromosome Position: 122686309 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 38557 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,52|T,68) SNP
Type: INTRON Context (SEQ ID NO: 434):
TATTTCTTAGAAAAAAAAATTAAAATCTGAGGCAAGTATGACCAAGTGTCAAGATGTAACAGAGCTGGGTGGTT-
GATCCATAGTTGTTCTCTCTGATCCT Y
CTCCTTCTCAAGTCTAAAACTTTTCCATGTTTGAGATATTTGGTGATTTTAAAGGTGGGAGGGGCAGGAAGCTA-
TGAGGAGATTGCAGCAGAGGAGGTTT Celera SNP ID: hCV30830638 Public SNP
ID: rs10985073 SNP Chromosome Position: 122683676 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 35924 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,64|C,56) SNP
Type: INTRON Context (SEQ ID NO: 435):
CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTA-
AAGTAAACCCTACCTAAAATGTACTG K
GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCT-
TCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528 Public SNP
ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 6942 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP
Type: UTR5;PSEUDOGENE Context (SEQ ID NO: 436):
CACTTCCCGCAGATGAGGATCTCATTCAGCGGCCCTGATGTCTTCCCTAGGCAGATGTTGCACTTGGGCTCCTC-
TCCTGGAACACCGGCTGAAAGAGAGG S
CCTCGAGGGTCGGGTCCAGCTCACAGGAATGGAAGTTTTATACTCACATTCCAGATGCCCAGCCTCTAATGTCT-
GCTAGGCCTAGCGCTGGGCCCCACAT Celera SNP ID: hCV25757804 Public SNP
ID: rs4836833 SNP Chromosome Position: 122672650 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 24898 Related
Interrogated SNP: hCV8780517 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780962
(Power=.7) Related Interrogated SNP: hCV25612709 (Power=.6) Related
Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP:
hCV2783582 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,28|G,12) African American
(C,23|G,13) total (C,51|G,25) SNP Type: INTRON;PSEUDOGENE SNP
Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,43|C,77) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 437):
TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATA-
AGCTATATAATGAAAGCTACCTTTTT Y
TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTA-
TCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665 Public SNP ID:
rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 2357 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898
(Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) Related
Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51)
Related Interrogated SNP: hCV8780517 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,58|T,62) SNP Type: INTRON Context (SEQ ID NO: 438):
AAAATTGCTTTTAGTCTACAGGTCCCCTCTCCATCTCTTTTTTTCTTTGCATTTTATTTTGGTTGAAGAATAAA-
TATGTTTTTATGTGTGAAAGGTTTGT R
TGTATACATTAAACACATTTTGATACGTGTTTGTCTTATTTCCCCAGCATGCTGAAAATTTTGTAAGGGTAGAA-
ATGGGATCTCTTCGGCCGGGCGCAGT Celera SNP ID: hCV1761881 Public SNP ID:
rs3933326 SNP Chromosome Position: 122673769 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 26017 Related
Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP:
hCV8780517 (Power=.7) Related Interrogated SNP: hCV8780962
(Power=.7) Related Interrogated SNP: hCV11720413 (Power=.51)
Related Interrogated SNP: hCV25612709 (Power=.51) Related
Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783625
(Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,44|G,76) SNP Type: INTRON Context (SEQ ID NO: 439):
CCCAATTTTGGTTTCCCTCCAGATGAGGCAGAATTTGAATGTTGGTTCCAAAAATTCTCTTTCAAACCCCCACT-
GGCAAGGGCTTCCCTTTGAGGGAACC R
AATGATGCAGGCTCTTTAAAAATTTCAACCTATCCCAAAAAGTGATTGTCCATTTCAGGGCAGGGCAAGGGATA-
TGAAAGAGGGTGAGTCCCCTGTGCTT Celera SNP ID: hCV8780961 Public SNP ID:
rs914842 SNP Chromosome Position: 122658792 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 11040 Related
Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) Related Interrogated SNP: hCV25612709
(Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,30|G,90) SNP Type: MICRORNA;UTR3 Context (SEQ ID NO:
440):
GTCCCTCCACATGCTCTCCACTACAGCCACACACAGCCTCTCTCTTTCCCCGCGGGCCTACTCGGGTCTCCTCC-
TTGTGGCCATGGCGCTGGGCACCTGG Y
GTTGTGACTATCTGTTCACAGGGAGAGAGTCCAGTGCCTGTTTCTGTGTGGTGCGTGTGTGTACTCCTGTGAGA-
CTGGGCAGGATGATGTCTACGGCATT Celera SNP ID: hCV16186951 Public SNP
ID: rs2297574 SNP Chromosome Position: 122678090 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 30338 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,118|C,2) SNP Type: UTR5;INTRON Context (SEQ ID NO: 441):
TACACACCAGCCATAGGCATAGATACACAAGGGGGAACACACTGTACACAACAGAGACACACAACAGAACATGC-
ATGTAAGGTAGACGGACATAACACAT R
AAGTCACAACACAGACGGGCAAGAGACACAAGTTTTCCTGAAAAAGTGGCATTCAGATAGGTTGTGGAAATAGG-
TTAGTGGGTGTGCCAGGTGGAGGGAA Celera SNP ID: hCV30830909 Public SNP
ID: rs11794516 SNP Chromosome Position: 122680051 SNP in Genomic
Sequence: SEQ ID NO: 83 SNP Position Genomic: 32299 Related
Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP:
hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795
(Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related
Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP:
hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783604
(Power=.9) Related Interrogated SNP: hCV2783633 (Power=.9) Related
Interrogated SNP: hCV2783638 (Power=.9) Related Interrogated SNP:
hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783625
(Power=.9) Related Interrogated SNP: hCV2783653 (Power=.8) Related
Interrogated SNP: hCV2783655 (Power=.8) Related Interrogated SNP:
hCV11266229 (Power=.7) Related Interrogated SNP: hCV2783590
(Power=.7) Related Interrogated SNP: hCV7577344 (Power=.7) Related
Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP:
hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783621
(Power=.7) Related Interrogated SNP: hCV2783634 (Power=.7) Related
Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP:
hCV11720414 (Power=.7) Related Interrogated SNP: hCV16175379
(Power=.6) Related Interrogated SNP: hCV30830725 (Power=.6) Related
Interrogated SNP: hCV2783641 (Power=.6) Related Interrogated SNP:
hCV2783618 (Power=.6) Related Interrogated SNP: hCV1761888
(Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related
Interrogated SNP: hCV2783586 (Power=.6) Related Interrogated SNP:
hCV2783597 (Power=.6) Related Interrogated SNP: hCV2783589
(Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related
Interrogated SNP: hCV15849116 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: MISSENSE
MUTATION;ESS;INTRON Gene Number: 7 Gene Symbol: PSMD5 - 5711 Gene
Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 5
Chromosome: 9 OMIM NUMBER: 604452 OMIM Information: Genomic
Sequence (SEQ ID NO: 84): SNP Information Context (SEQ ID NO: 442):
ACAAGGTCATGGTTAACAAGACTGCCACCCATAAAATAGTTTCTACAATGTAGTTAACCCACCAGCAAATGAAC-
TTACATATTGAACCCCTGTCAAAGAT K
AAGATATCCCTGAACAGGGCCAAGTCATACCAACCTGTTTTCTGTAAAACCTGTTTTCCTTCAACATTGGATCC-
CAAGATTCCAACTGTGTCTACAGCTA Celera SNP ID: hCV22272588 Public SNP
ID: rs10760117 SNP Chromosome Position: 122626558 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 18406 SNP Source:
Applera Population(Allele,Count): Caucasian (G,21|T,17) African
American (G,12|T,24) total (G,33|T,41) SNP Type: MISSENSE
MUTATION;INTRON SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (T,58|G,62) SNP Type: MISSENSE MUTATION;INTRON Context
(SEQ ID NO: 443):
CAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTTCTGTAATCTTTCAGGTTGCTGTGAT-
CAGTCCCCAAGGAGTCTACACTCTCA M
AGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGTGTAACTCTGCCTGTGTTTGCATGCC-
ACCTCCAGAACCACTAAAATATAATT Celera SNP ID: hCV1452662 Public SNP ID:
rs10985051 SNP Chromosome Position: 122647701 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 39549 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,93|C,19) SNP Type: UTR5;UTR3;INTRON Context (SEQ ID NO: 444):
CTCACTGCTGGTTTTGTGTGTGTGTGTGTGTGATTTAAAATTACATTCAGTCAACTCTATAGCCCTATGGGCTT-
TTTGAATAACCAAATGCTCAACAGTT Y
TGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCAAAGAGACTGGGAAAGGCCTGTGAG-
ACAATGGGATTCTTTTTTCTAGAGGT Celera SNP ID: hCV8780967 Public SNP ID:
rs933003 SNP Chromosome Position: 122647650 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 39498 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,115|T,5) SNP Type: UTR5;UTR3;INTRON Context (SEQ ID
NO: 445):
GGAGGTCGAGGCTTCAGTGAGCGGTGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGCTTT-
CCCCTCTTGTCCTCCACTACCCTCAG R
AAACCAAGAAAGACCAGCGTGGAGAGTTGGTCGCCCATCTGCTCTAAGCTGCTGTGTATTCCCCTGTAATGTAA-
ACATCGTGAAGGTGGAGACCCAGTTA Celera SNP ID: hCV26144018 Public SNP
ID: rs10739575 SNP Chromosome Position: 122645922 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 37770 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,29|A,91) SNP Type: UTR3;INTRON Context (SEQ ID NO: 446):
CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTA-
AAGTAAACCCTACCTAAAATGTACTG K
GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCT-
TCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528 Public SNP
ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 46542 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP
Type: UTR5;PSEUDOGENE Context (SEQ ID NO: 447):
AGGACCTATGGAAGTGAATACCTACCGTAAACACTTTTAAGGCAGCACAGTGTAGTTCAGGGAAGGGCTGACTA-
CTAATGCCACGGAAGAGCTCCAGTGG R
TCCCGAGATAAAGAAGAAAACCAGGATTCTGTCATCCTCAGAAGGTCATCAGTCTGCTGCTCAGGCTACAGGAA-
AGAAAAGGAAAATCTCATCAAAAGTT Celera SNP ID: hCV1452652 Public SNP ID:
rs1060817 SNP Chromosome Position: 122623013 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 14861 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (A,16|G,16)
African American (A,22|G,12) total (A,38|G,28) SNP Type:
UTR3;SILENT MUTATION SNP Source: Applera Population(Allele,Count):
Caucasian (A,6|G,16) African American (A,18|G,12) total (A,24|G,28)
SNP Type: UTR3;SILENT MUTATION SNP Source: dbSNP; Celera; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,57|G,63) SNP
Type: UTR3;SILENT MUTATION Context (SEQ ID NO: 448):
TGCATTGAGACTATACAGAATCATGGTTAAGAACACAGACTGTGTAGTCAGACTGCTTCGATTCAAAGCCCAGC-
TCTGCCCAGCTGTGTAACCTTGGGCA R
TTTTCTTAACCTCTCTGTGCAGTCATTGCCTCGACTGTGAAATGGGGTAAAAATAATATGTGGCTCATAGGGTT-
CTTAACGGAGTTCAATGAGTTAAAAT
Celera SNP ID: hCV1452630 Public SNP ID: rs10818476 SNP Chromosome
Position: 122611859 SNP in Genomic Sequence: SEQ ID NO: 84 SNP
Position Genomic: 3707 Related Interrogated SNP: hCV22272588
(Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51)
Related Interrogated SNP: hCV15870898 (Power=.51) Related
Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP:
hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783620
(Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51)
Related Interrogated SNP: hCV30830638 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV8780517 (Power=.51) Related Interrogated SNP: hCV2783638
(Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51)
Related Interrogated SNP: hCV2783608 (Power=.51) Related
Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP:
hCV16234795 (Power=.51) Related Interrogated SNP: hCV1917481
(Power=.51) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (A,58|G,62) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 449):
AAATGCAACATATGAGAACCAACATTGTTTAACTCAACCTTGTCAATCTGGGCAAAGTGTGCTGAAGACAAGGA-
GTTAGTCCTTGACGAGTGAGTAAGAG K
TTAAGAAGCAAAGTTAAGGAAGAGTGTTAGATACGGAGACCCCAGCAAAGGTCCAGAGACACAAAACAAACAGT-
TTGGTACCACTGGAGCATTAGGTGCC Celera SNP ID: hCV1452651 Public SNP ID:
rs3793638 SNP Chromosome Position: 122622518 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 14366 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP
Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (G,57|T,63) SNP Type: INTRON
Context (SEQ ID NO: 450):
TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATA-
AGCTATATAATGAAAGCTACCTTTTT Y
TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTA-
TCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665 Public SNP ID:
rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 41957 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898
(Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) Related
Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51)
Related Interrogated SNP: hCV8780517 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,58|T,62) SNP Type: INTRON Context (SEQ ID NO: 451):
AATCAAAAATAAAAGTTGTCCTACTATTTTCAGACCCACTTCCCTATTAATAGTTTCTGGTGTACCTTTGCAGA-
TATTTGCAATGTTATACAAGTTTTAC M
TGCCTGTGGGGGTTGGGAAGATTGTAATCCTTTTTAAAAATTACAGGTTAAAATTATAGATTGATATACCCTGC-
GATTTTCTTTTTCATTCAACAACACA Celera SNP ID: hCV30829523 Public SNP
ID: rs12343516 SNP Chromosome Position: 122643290 SNP in Genomic
Sequence: SEQ ID NO: 84 SNP Position Genomic: 35138 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(A,57|C,63) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Gene
Number: 8 Gene Symbol: RAB14 - 51552 Gene Name: RAB14, member RAS
oncogene family Chromosome: 9 OMIM NUMBER: OMIM Information:
Genomic Sequence (SEQ ID NO: 85): SNP Information Context (SEQ ID
NO: 452):
AAACTTTCACTATTTTCTGATTTGTCATTGAATTCCTTCCCGCAGTGGCGTCAAAAGCCTGGACACCAGCCGGG-
GCCGAGGTCCTGCAGGTATTTGGGGA M
CTCCCCTAGCCCACTGATATCTGCATCATTAGTATTCTTACTATTCTCACCTCTCAGAGATCACAGTAGGTGAA-
GCTCTTCCCATACTTTCTGTCACTGT Celera SNP ID: hCV2644 Public SNP ID:
rs747846 SNP Chromosome Position: 123022431 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 52194 SNP Source:
dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian
(A,35|C,85) SNP Type: INTRON Context (SEQ ID NO: 453):
TATTTTTGCTGTAGAGGGAAACACTATCTCTATCCTCCAAGCCTGCCCTACAAACATCCTTGAAAAGACAGTCT-
AGGACAAAGGGCAGTCAGTGCCTATG Y
TCACAAAATGTACAGAAACATGAGACCCATGGAAGGTCATCTCCCAACAGGGGCAGGATTTTTTGTATTGTAGA-
ATATAGTACTGTATTTGGTGGAGGGA Celera SNP ID: hCV3045812 Public SNP ID:
rs7030849 SNP Chromosome Position: 123009655 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 39418 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,64|T,56) SNP Type: INTRON Context (SEQ ID NO: 454):
AACAATATTCTTAGCACACATCACCATACTTAAATTTTATTGAGTTTTTAATTATGTGAAGTCTTCAGAAATGC-
ATTCCTTATAAAATCAGACAGTTCTG Y
GTAGGCGGCCAGGTTTATTAACAGTCTTCCCATAATACTCTTGATCATATCACAGATTGCCTGGCTATAATGAA-
GGGCATTAAGGCTTGTTTCCCTTTGA Celera SNP ID: hCV7577254 Public SNP ID:
rs942152 SNP Chromosome Position: 122991506 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 21269 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,65|T,55) SNP Type: INTRON Context (SEQ ID NO: 455):
TGTTCTTTAACCTATGTAATGCTGCTTTACCTCAGCTAGAACCGATAGAATCTAAGTATTTGGGAGAGGAAGTA-
GAAACACAGTGATGAACTGTAAGGTT W
TCATAGGCCAGTGGTGGCAGGAAAGATTTGGGATACTGGAAAAGTAGGCTGAATGTCAGGTAAGGAATTGTTTG-
GCTCAGAACATGTTGACTTTGAAGGC Celera SNP ID: hCV15757738 Public SNP
ID: rs2302498 SNP Chromosome Position: 122976150 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 5913 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,63|T,57) SNP Type: UTR3;INTRON Context (SEQ ID NO: 456):
TCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTT-
TTTTACTGGGTATGATGCCCTTGAGA M
CCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTC-
CGAACTGTTTAACCATTCACCTGTCA Celera SNP ID: hCV30830538 Public SNP
ID: rs10760152 SNP Chromosome Position: 122987806 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 17569 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,47|C,71) SNP
Type: INTRON Context (SEQ ID NO: 457):
ATTTCCTGATAAAAGCTCATCTTACCACTGATAACACAGTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTA-
TAAAGCCAAGTGAGACACAAGCCTTG Y
TCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTCCTCACATTGTTCCTGGCATACCCTCAACAATATCTAC-
TGAAACTTCACTCACCCCTCAAGGAC Celera SNP ID: hCV30830539 Public SNP
ID: rs10760153 SNP Chromosome Position: 122988196 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 17959 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,44) SNP
Type: INTRON Context (SEQ ID NO: 458):
CTAAAAGGCACTTCAGCCATTAACTTTTTTTCATGTAAAATTACAGCTCCTGGCTCTTCCACTTTCAAAAATGT-
GTGTCCATAAACCAAATAATCATTTT K
ATCTGAATGTAAACCTCATGCAAGGACAGTTAAGTAGTACAACAAAAGTGAGCATTCTTTAAACAGTGTGGACA-
AAGTGCCCACTGTGAAGGGGAAGAAA Celera SNP ID: hCV30830536 Public SNP
ID: rs7047038 SNP Chromosome Position: 122986768 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 16531 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|G,72) SNP
Type: INTRON Context (SEQ ID NO: 459):
GTGCCTGCAGGAAGATGGGACTGACAACTCCCTGGATATCTATCTGTTTGGGCAGCACTGATCTGCTCTGCCCT-
ATTGCTTCCTGCACAAAGGAGAACAC W
GATGGAGAGAGACAGCACTGGAGGGGCTTTGGATGGTGTGGGGAGAACCTTAGATGAAGAGGGGCTGAAGTTGC-
TTCCCCTTATCCCTTCCTCCCACCTT Celera SNP ID: hCV29752541 Public SNP
ID: rs9409230 SNP Chromosome Position: 123007581 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 37344 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,107|T,13) SNP
Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 460):
TTAGGCACTATAATTATAATTAGTCAATATCTTTATTCTAAGGCAGCATTTCCCAAAGTGTGTTCCTCAATAAA-
ATAAGCTTAGGAAACACCAAATTAAA Y
AAAGTCATACAGCAAAGAATTTCTTACTGCAGAACTTCCCAGAGTCTTAATATGCTAACGCACATTATGACACA-
TCAAGAGGAAACCTTTTAAGGCATTT Celera SNP ID: hCV30203282 Public SNP
ID: rs9408928 SNP Chromosome Position: 122991738 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 21501 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,105|C,15) SNP
Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO:
461):
TATTACAGGAAGAACAGATTGACCAAGCTTGTCTGAGATGCCAAACTCAACCTCACTTGTGAAAAGTCAAACAC-
TGTCATTTGGGAAAAGTCAAACACTT Y
TGAAATGTAAACAAAGTTTCATTTATTAACCTGGGTTACCAACAGGCATAATCAAGGTACAATCTTTTAAGTAA-
CAAAAATTCATATTATTTTGAAATGT Celera SNP ID: hCV15751717 Public SNP
ID: rs2296077 SNP Chromosome Position: 122984764 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 14527 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916
(Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783638 (Power=.6)
Related Interrogated SNP: hCV2783633 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.51) Related Interrogated SNP: hCV2783655
(Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51)
Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783604 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,21|T,15) African American
(C,9|T,27) total (C,30|T,42) SNP Type: INTRON SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,63|C,55) SNP Type: INTRON Context (SEQ ID NO: 462):
TTCCATCCTGAATGTTCTGATAGATTTTCTTGGCAGCCTCAAGGAAGGCATCTTCTACATTCTCTCCCCTAAGA-
GGCAATTGATAACTTTATTGGAGAAC Y
ACAGTTTTCTACAAAAGACAAGACACTGACCTTTTGCTAATCTTTAGTTAACTGCCATGATGTCTCCAACTTAA-
CCACTGTCATCTAATAAGAGATTACC Celera SNP ID: hCV15751718 Public SNP
ID: rs2296078 SNP Chromosome Position: 122983705 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 13468 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (C,23|T,15)
African American (C,29|T,9) total (C,52|T,24) SNP Type:
INTRON;PSEUDOGENE SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (C,75|T,45) SNP Type:
INTRON;PSEUDOGENE Context (SEQ ID NO: 463):
CTCAAATCATTCAACTGAAGCTGCTTTTCAGAACTGTATTCTTCTATTAGCTTCACCCAATAACTAACTCCCTA-
AATTTTTCTTCAGTCATAAAAACTTT Y
GGAAAATATCAATGTGTTATATCAAGTTTTACATGGCAACTTAAGAAACCATAAAAAACAAGTAAGTTCATTCA-
CAGTCATACAATTACAAACTAAAAAA Celera SNP ID: hCV25613469 Public SNP
ID: rs10760157 SNP Chromosome Position: 122992475 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 22238 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source:
Applera Population(Allele,Count): Caucasian (C,22|T,12) African
American (C,13|T,19) total (C,35|T,31) SNP Type: INTRON SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP
Type: INTRON Context (SEQ ID NO: 464):
AAGATGTAAGAGTAGTTGTATGGTGCAGTTGCCATGGTGGCACTAAAAACAAAGAAATCTCTGTTACTTCAGAA-
GGAAAGCATATACAAGTAATTCAAAC R
GATGACTGATATCCTTTAAAGGTAGAAAAGGACACTGAATACAAACAAATGTTGGTTACAGTAAGTCAAAATAA-
AACTGCATTTCACAAACTGATCAAAT Celera SNP ID: hCV3045808 Public SNP ID:
rs10818516 SNP Chromosome Position: 122995577 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 25340 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)
Related Interrogated SNP: hCV29824827 (Power=.51) Related
Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) SNP Source: Applera Population(Allele,Count): Caucasian
(A,15|G,23) African American (A,9|G,27) total (A,24|G,50) SNP Type:
TFBS SYNONYMOUS;INTRON;PSEUDOGENE SNP Source: dbSNP; Celera;
Applera Population(Allele,Count): Caucasian (G,71|A,45) SNP Type:
TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO: 465):
AAGAAAGAGTAGAAAGAATTCCATTTTAAGTATTTCAAATCTGTTATTTAACAAATGATACATGCAGCAAATTT-
CTCCTAATAAGACAATCAATTCCTGT R
ACAGAAAGTCAGAGAATAAAAAGATTAAGTTTGACATTATTTTATGTATTTTTAAAAATTATTTTAACATCAAG-
AAATCAAAACAAGCAAATCAGATTAT Celera SNP ID: hCV7577249 Public SNP ID:
rs1359085 SNP Chromosome Position: 122993977 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 23740 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: Applera Population(Allele,Count): Caucasian (A,19|G,9)
African American (A,22|G,8) total (A,41|G,17) SNP Type: INTRON SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,75|G,45) SNP Type: INTRON Context (SEQ ID NO: 466):
ATAATTGCCAAAAGATACTCTTAAAGTATATTACCTATGAGCTTTGGGAATAATGATCTACTTCATCTCAAGTG-
TCAAAAAAATCATATTAACAGTTCTT Y
TGTCCAGATTTGGCATAGTGAATGGTACCAGAATACAGGTGTTTGCTTTTAGGTCAGTTTGTTCTCTCTTGAAC-
CATATATAAATGAAGTTGACGTGGGA Celera SNP ID: hCV782875 Public SNP ID:
rs746182 SNP Chromosome Position: 122970786 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 549 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,62|C,58) SNP
Type: INTRONIC INDEL;INTRON Context (SEQ ID NO: 467):
AGGTTGACCAGGCTAGTCCTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATT-
ACAGGCATGAGCTACCGTGCCTGGCT Y
ATAGAGAGTTTATTTTTATTTTTATTTTCAAGACAGAGTCTTGCTCTGTCGCCCAGTCTGGAGTGCAGTGGCAT-
GATCTCAGTTCACTGCAACCTCCACC Celera SNP ID: hCV3045804 Public SNP ID:
rs2057467 SNP Chromosome Position: 122972543 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 2306 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV30167357
(Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51)
Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (C,66|T,26) SNP Type:
INTRON Context (SEQ ID NO: 468):
TGGCAAAAGTAACTTTGATGGTCTTCTATATACAGGAAATAAAGTATTCTAATACTGGACCTCTGTTTACAGAA-
AGAAAGCACTTAACAACCAAAAAGCC R
AAAAAAACCCCTGCACTTACTGCTCAAGTTAAAAGGATTAATAGTGAAAATTTTACTACCGATATTGTGTCTGA-
GATTTGCTTCAAAATAATTTGGCAAG Celera SNP ID: hCV3045810 Public SNP ID:
rs2209076 SNP Chromosome Position: 123001226 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 30989 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)
Related Interrogated SNP: hCV29824827 (Power=.51) Related
Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (A,74|G,46) SNP Type: INTRON
Context (SEQ ID NO: 469):
GAGTGTGGCATAATGACACAAGCTAACCATCTGCTGGAAGATATAGCAAATGTGTGAGGGGTCACCTGTTCCTG-
GGAAGATGCCTGGAATCCTCCAGGTG Y
GCAGGTTGTTTGTCACCTGCTCTGGCTTCATTTCTGCTTGTATTTTTATAAATTGTTTTGTAAAAAGTAGATGT-
TATTTTATCCTTCATCTCTTCCCAGA Celera SNP ID: hCV7577235 Public SNP ID:
rs1052508 SNP Chromosome Position: 123007832 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 37595 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,75|C,45) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 470):
AAGCCTTGTTACCCATTCCAGTTTGGCATGTTCTAACACATTTATAATCAGTCTCCTGCATCACAGAAAACTCC-
CTTAACCAGTTCTTTCAGGAAAGGGA S
TTTTTCTAGTTAGATTAACTGATTCTGAACATCACAACAACTTTATTCCCTTTTCCAGGCACTAGGAACTCAAA-
ACTTTTAAGAATGAACTTGGTCCTGA Celera SNP ID: hCV7577248 Public SNP ID:
rs1359086 SNP Chromosome Position: 122997121 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 26884 Related
Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP:
hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)
Related Interrogated SNP: hCV29824827 (Power=.51) Related
Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539
(Power=.51) SNP Source: dbSNP; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,46|G,74) SNP Type: INTRON
Context (SEQ ID NO: 471):
TTAATTATGTGAAGTCTTCAGAAATGCATTCCTTATAAAATCAGACAGTTCTGCGTAGGCGGCCAGGTTTATTA-
ACAGTCTTCCCATAATACTCTTGATC R
TATCACAGATTGCCTGGCTATAATGAAGGGCATTAAGGCTTGTTTCCCTTTGAGGCCACCCAATTCTAGAATTT-
ACTGAAAACTTTAGGCACTATAATTA Celera SNP ID: hCV7577250 Public SNP ID:
rs942153 SNP Chromosome Position: 122991553 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 21316
Related Interrogated SNP: hCV2783620 (Power=.6) Related
Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP:
hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894
(Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51)
Related Interrogated SNP: hCV2783634 (Power=.51) Related
Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP:
hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344
(Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51)
Related Interrogated SNP: hCV2783641 (Power=.51) Related
Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP:
hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597
(Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,48|G,72) SNP Type: INTRON Context (SEQ ID NO: 472):
TCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGAAGGCCTCCTCA-
CAGGTCCAAGGGCAATGAGCAACCTC R
AGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTTTCCAAAGTGTA-
CTGCCCGGTGTCTGGCACACGCATGT Celera SNP ID: hCV11720348 Public SNP
ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 10706 Related
Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,45|G,73) SNP
Type: UTR3 Context (SEQ ID NO: 473):
TACTCCATCAAACACGTTATTATCCATAAAAAAGACTTCAACATTGTACTGGAAGATCTATTTAAGCATAAATA-
GTACTAAGCACCAATTACTAATCTGA R
GGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTCAAGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATT-
AAAAATTAAAAGGATTTCACATTCTT Celera SNP ID: hCV11720350 Public SNP
ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 10669 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap Population(Allele,Count): Caucasian (A,48|G,72) SNP Type:
MICRORNA;UTR3 Context (SEQ ID NO: 474):
TTCTCTAAAATGCCACATGAACCCTCTCTATATTCCCACATGAAGAGGAATGGAAGGTAATTATTTGGTCTTTT-
CTTCTGTTTAGGGGAATGAACTGAAC S
ACTCATTTTTTTAAAATCACACTTAAAAGACACATGGGCAAAAAAGTTCCCCAAAACTACTGTCTTACCGAATT-
TGAGAAGGGAGGTAATGTATGAAGCT Celera SNP ID: hCV11720351 Public SNP
ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 10380 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP:
hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633
(Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related
Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP:
hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,65|G,55) SNP Type: UTR3
INDEL;UTR3 Context (SEQ ID NO: 475):
GTAGCTTCCCCTCTCTGGGCCTCAATTTTCCTATCTGGAATGTAGAGAGGTTAGTTGATCTTTTCAGTTCAATT-
TTATTTTTCAGACCAAAGGACCACAG Y
CTTGCAGGGCAGTTCAAGTAGATGGGGCTCTATCTCCTCTTCCGTTCTCTCCCAATAACCACCTCCCCACCAAA-
AGAAAAAACCCATAGCAAAAAAATAT Celera SNP ID: hCV16110109 Public SNP
ID: rs2078141 SNP Chromosome Position: 123013845 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 43608 Related
Interrogated SNP: hCV29824827 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (T,79|C,41) SNP Type: INTRON
Context (SEQ ID NO: 476):
AAGCACAGGCGCACAGACCCAGACCCCGGCCCCGGCCCGGCCCGGCTGCAGGGCCGGGCTCCCCACATCGACAA-
GGACACCGGAGCTGCCCCGAGACGCC R
AGAGGGCTGCGAAGAGCTGCCTTTGTACTCAGAGCCAGACGCGGCCTACGGGACGGGACCGCCACGTCTGGGGC-
TTGCGGGCTGCAGGGCGGCGCGGCAC Celera SNP ID: hCV16234838 Public SNP
ID: rs2416819 SNP Chromosome Position: 123003235 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 32998 Related
Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP:
hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414
(Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51)
Related Interrogated SNP: hCV2783586 (Power=.51) Related
Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP:
hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725
(Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51)
Related Interrogated SNP: hCV29006006 (Power=.51) Related
Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP:
hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590
(Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51)
Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP;
HapMap; HGBASE Population(Allele,Count): Caucasian (A,48|G,72) SNP
Type: MISSENSE MUTATION;INTRON Context (SEQ ID NO: 477):
AGTCTTTTGGGTGACCCCACGTGGCCATTCTAGTTTCATCTGTGCTTCCAATCCCCTGATGCCCCACATATACC-
CACCATTTAATTCAAGAAAAAATAAC Y
AAAAAAAAATTATTTAAAGACCACAAGCCCTTAGTGATTTTGCCTTTGCAAATTTGGTAAGGCAATTAGCAGTA-
GGTATAAATTTCATATTTCACTAAGC Celera SNP ID: hCV26144332 Public SNP
ID: rs4837813 SNP Chromosome Position: 122974284 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 4047 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,62|T,58) SNP Type: INTRON Context (SEQ ID NO: 478):
TTACACAAGCCAGACATTTAATATGACTGGAGAAATTTATTTACTGAAATTATCACCTTACTATATACCATATT-
TCAAGCAAAAGTTCTATATAACAACA Y
TGAACCCGTAGAAAGAATATATATTTAAAACAAGTGTATTATTATAAGGGAAGAGGAAGTTGTTAATTACAGTA-
AAGTATTAATCACTTCCACACACTAC Celera SNP ID: hCV29005955 Public SNP
ID: rs7036980 SNP Chromosome Position: 122996877 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 26640 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV16234795 (Power=.6) Related Interrogated SNP: hCV2783625
(Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51)
Related Interrogated SNP: hCV25751916 (Power=.51) Related
Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP:
hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (T,60|C,60) SNP Type: INTRON Context (SEQ ID NO: 479):
GTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTGTTCCTGAGAAAC-
TCAAGTCACAGCTCAGTGTGTCTTTC Y
TCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGACCAGCTCAAACAC-
CACTCCTCTGTAAAGCTGCTTTCTCT Celera SNP ID: hCV30830540 Public SNP
ID: rs10760154 SNP Chromosome Position: 122988234 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 17997 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(C,75|T,45) SNP Type: INTRON Context (SEQ ID NO: 480):
CTTCAATCTACTTTGCAGCACAGTTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGG-
ACCAAGGATCCATGTTTATCTTTGTA W
ACTGCAGAGTCTAGCATGGTGGCTAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAAT-
GTTTTAACACATATAGAATCCTTTTT Celera SNP ID: hCV30830541 Public SNP
ID: rs10760155 SNP Chromosome Position: 122988499 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 18262 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,75|A,45) SNP Type: INTRON Context (SEQ ID NO: 481):
TTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTT-
GTATACTGCAGAGTCTAGCATGGTGG Y
TAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTT-
TTTATTTTTGACTGAAATTTTTATCC Celera SNP ID: hCV30830542 Public SNP
ID: rs10760156 SNP Chromosome Position: 122988522 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 18285 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51)
Related Interrogated SNP: hCV16234785 (Power=.51) Related
Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,75|T,41) SNP Type: INTRON
Context (SEQ ID NO: 482):
TGGCAATCACTAATCTACTCCCCATCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAG-
TATGTAAACTTTTGAGATTGGCTTTT K
TACTGGGTATGATGCCCTTGAGAACCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAG-
TAGTACTCCACTATAGAGATGTTCCG Celera SNP ID: hCV30830537 Public SNP
ID: rs10818515 SNP Chromosome Position: 122987782 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 17545 Related
Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP:
hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402
(Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51)
Related Interrogated SNP: hCV30830539 (Power=.51) Related
Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP:
hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785
(Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(T,73|G,45) SNP Type: INTRON Context (SEQ ID NO: 483):
AAATGTGATATTTTTCACAATTTGTCTACCACCTGCCATCTTCCAACTTGCTCTGCCATAATCACTGCCCCAGA-
AGGTTTCGTGCTTTTCGGGTGCAGGG R
CACGTTTTGACTTTCTTGGACCCTGAGCACTTTTGCCTTGTGGCTTGTACATTACACACACACATATATTTCAC-
ACACATGTAAGTTAAATATATGTATA Celera SNP ID: hCV29879049 Public SNP
ID: rs9792437 SNP Chromosome Position: 123004722 SNP in Genomic
Sequence: SEQ ID NO: 85 SNP Position Genomic: 34485 Related
Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP:
hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795
(Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related
Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP:
hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608
(Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related
Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP:
hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638
(Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related
Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: INTRON
Gene Number: 9 Gene Symbol: TRAF1 - 7185 Gene Name: TNF
receptor-associated factor 1 Chromosome: 9 OMIM NUMBER: 601711 OMIM
Information: Genomic Sequence (SEQ ID NO: 86): SNP Information
Context (SEQ ID NO: 484):
TGTTCTGCCTATGCTTAGGTAAGACATTAGGAAGAACTTCCCTGAGTACTGTGATGACTTAATAGTAGGCTCTG-
ATGCTTGGGAAAGTCATTAGTACAAA S
GACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGA-
ACCATAGTGGATAGATCTCCTTTCTC Celera SNP ID: hCV16234795 Public SNP
ID: rs2416804 SNP Chromosome Position: 122716217 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 55095 SNP Source:
Applera Population(Allele,Count): Caucasian (C,20|G,18) African
American (C,12|G,26) total (C,32|G,44) SNP Type: INTRON SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,62|C,58) SNP Type: INTRON Context (SEQ ID NO: 485):
ACCTGCCCATCCTCCCTCCTGGGGTATGAATTCTCAAGGGGATGACTCATGTCCTAAGTACCTTCCTAAGTCAA-
TATACAACCAGATTTGATCATCATCA M
AGGTGGGCTTGGGGTTCATGGTCAAGGGCAGATGCCAGGAGTAAGAGATGGAAGGACAGAAGGAAGAAATGAAG-
GCAGCAGAGGAGAGAAGACCTGGGGA Celera SNP ID: hCV25751916 Public SNP
ID: rs10985070 SNP Chromosome Position: 122675942 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 14820 SNP Source:
Applera Population(Allele,Count): Caucasian (A,17|C,19) African
American (A,10|C,22) total (A,27|C,41) SNP Type: TRANSCRIPTION
FACTOR BINDING SITE;UTR3;INTRON SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (C,64|A,56) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON Context (SEQ ID NO:
486):
GGACAGCAACAATGTTCTCAAACACACGCAGCTTCCCCTCCAGCTCAGCCAGAAGCTTCTCCTTCATGAAGTGC-
TGCAGGGCCAGCTCCTCCTGGCTCTC R
GAGCAGGGTGCCCGGTAGCAATCGACCTCCAGGTCCCCCGCCACTTCCACGGCTGCCTGCAGCTGCAGGTCTGA-
CAGGTTCTGCTCCAGGGCCATGGGCC Celera SNP ID: hCV25763321 Public SNP
ID: rs3747841 SNP Chromosome Position: 122715622 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 54500 SNP Source:
Applera Population(Allele,Count): Caucasian (A,1|G,37) African
American (A,3|G,35) total (A,4|G,72) SNP Type: ESE;SILENT
MUTATION;PSEUDOGENE SNP Source: dbSNP; HapMap; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (G,114|A,2) SNP Type:
ESE;SILENT MUTATION;PSEUDOGENE Context (SEQ ID NO: 487):
GAAACGCAGAAGCCAGAGGCAGTTGGGAAGTGCTGGACTTTGCAGATGTGGGACTGGGATCCAGTGGTCAGGCA-
TGCCCAAGGTCAGCGGCTCAAAACCA K
GAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTA-
GCTTAGTGTTTGTCAGCTGGCCATCC Celera SNP ID: hCV25766419 Public SNP
ID: rs12377786 SNP Chromosome Position: 122711580 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 50458 SNP Source:
Applera Population(Allele,Count): Caucasian (G,0|T,36) African
American (G,4|T,34) total (G,4|T,70) SNP Type: INTRON SNP Source:
Applera Population(Allele,Count): Caucasian (G,0|T,38) African
American (G,5|T,33) total (G,5|T,71) SNP Type: INTRON SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,117|G,1) SNP
Type: INTRON Context (SEQ ID NO: 488):
CAAGGTCAGCGGCTCAAAACCATGAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGG-
AATGGGCTCTTGGGGGTCATCTAGCT Y
AGTGTTTGTCAGCTGGCCATCCAAGTCATACACTGCCGGGCCCCACCCTCAGAGTTTCTCACTCAGTGACCCTG-
GGGTGAGAACTGAGAGTTGGCACTTC Celera SNP ID: hCV2783618 Public SNP ID:
rs2239658 SNP Chromosome Position: 122711658 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 50536 SNP Source:
Applera Population(Allele,Count): Caucasian (C,23|T,13) African
American (C,27|T,11) total (C,50|T,24) SNP Type: INTRON SNP Source:
Applera Population(Allele,Count): Caucasian (C,24|T,14) African
American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,51|C,69) SNP Type: INTRON Context (SEQ ID NO: 489):
GTCATTAGTACAAAGGACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAG-
ACCTGGAGGTCTGGAACCATAGTGGA Y
AGATCTCCTTTCTCACACTCAGATGCTTACCTTGAAGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAG-
CCTCAGCCACCTCGGGGTGAGCCTGG Celera SNP ID: hCV2783621 Public SNP ID:
rs2416805 SNP Chromosome Position: 122716303 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 55181 SNP Source:
Applera Population(Allele,Count): Caucasian (C,24|T,14) African
American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,51|C,69) SNP Type: INTRON Context (SEQ ID NO: 490):
AAACCTACATGGCCGAAATAGCCCCAAACAACAAATTGCGTAGAGACACAGTGCACAGAAATACATGGTACAAT-
CGCAAATATATACCACACGCACAACA Y
GTCATGTAAATAAAGGGCACACAATGAAAGACAACATGCACAGAGTCATAGGAATGGCAGATGGAGTCAGTGGG-
CAGAGCTCCAATCATAGGGACCCTGC Celera SNP ID: hCV1761888 Public SNP ID:
rs1953126 SNP Chromosome Position: 122680321 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 19199 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,52|C,68) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID
NO: 491):
CTCACCTCTGAGGCTACAGGCCAGCTCCACCCATTACTGGCCATGGGAGCCTGAGTGTGTCACTTCTTTCTTTC-
TTTTTTTTTTAAACAATTCTTGCTCC M
GAGACTTTAAGTCTTAAGCCTCCGTGTCCTCACCTAAATAGAGTTATTGGGAAGGTTAGAGTTAATGTATGCAA-
AGCCCCTGGTGCCCAGTAGGTGTGCA Celera SNP ID: hCV1761891 Public SNP ID:
rs1930778 SNP Chromosome Position: 122681190 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 20068 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,42|C,60) SNP Type: INTRON Context (SEQ ID NO: 492):
GATGGGCACGGAGTCGAGTCTGTCAATATAGGGGGGTGGGGGGTGAGGATGTCGCACAGTTGGGACCCTCAAAT-
ACCTATGGAGATATGAACTGGTAAAA Y
GATTTTGGAGAACAGTTTGGCAACTTGTAAGAAAGTGGAAGATACTCATAGCTACAATTCAATGACTCCACTCG-
TCATTCAGCGCATAATTGTGAAAATT Celera SNP ID: hCV1761894 Public SNP ID:
rs1609810 SNP Chromosome Position: 122682172 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 21050 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,45|T,57) SNP
Type: INTRON Context (SEQ ID NO: 493):
AGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGATAGTAAATATTTTGGGCTATGAA-
GTCTTTGTTGCAAGTACTCAATTTTA Y
ATAATTTTCATGTGTCCCAAAATATCTTTTTTTGTTTTTTTGAGACAGGGTCTCATTCTGCTACCCAGGCTGGA-
GTGTAGTGGCACGATCATGGTTCACT Celera SNP ID: hCV2359565 Public SNP ID:
rs1014530 SNP Chromosome Position: 122724913 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 63791 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,63|C,57) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 494):
CAGAGATGTATGCCATGCCACTTTTGTCAGGTCCCCAGCAGTCCTCTTGAGTTTTTTAATTGCCAAAATTTATT-
TTAAAATCCTTCTGTTTGAGTGTTCC R
TGACATGTGACCTTCTTATGAGTTTCAGAGGTAATCCCTGCCTGGGTGGAGGAATACCTAAGTGACCTTCAGGA-
CCTCTTTCAGCTTGGAGAAGCGGAAA Celera SNP ID: hCV2783582 Public SNP ID:
rs10818482 SNP Chromosome Position: 122687906 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 26784 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,64|G,56) SNP Type: INTRON Context (SEQ ID NO: 495):
GATGGAGACCAAGGGCCTTGTATCAGTTGGAATTCTTGATTATGAGCAACCAGGACCAACTCTGTCCATCCAAA-
GCAAAAGGGGGACTTTCTGGAGGGTA S
TGAAGGTACACAGAATGAACAAGAGGCTGGAGAACAGGCTTGGACAAAGGGCAGGACCAAGAGAGGAATTCTGG-
CCAAGGGAAGGCTGCAGGCACAGTCT Celera SNP ID: hCV2783586 Public SNP ID:
rs2270231 SNP Chromosome Position: 122690803 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 29681 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,52|G,68) SNP Type: INTRON Context (SEQ ID NO: 496):
GCAGGAGGACTCGCTCCTAATTCCTTCCTGGTTCCGAGTCAAAGGATGAGGCCCTGAATCTGTTAAAGAGAAAC-
CACAGCTTTCAGATAACAGACAAACA Y
GTCTTTAACACACGCAATCTTTGATTCAAATGATTTCAAAGGGCATGGGGGAGGGAAGGGTTTTTGTGAGCTTT-
AACCGAAGCCGCTCATCAGAATGTCA Celera SNP ID: hCV2783589 Public SNP ID:
rs881375 SNP Chromosome Position: 122692719 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 31597 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,52|C,68) SNP Type: UTR3;INTRON Context (SEQ ID NO: 497):
GACAATAGCCCTGCCATTTCCTAGCGACTGGGACCTTAGCCAAGCTGACTAACCTCTCTTAGCCTCAGTTTCCT-
CGTCTGTACAATGGGGACAATCTCAG Y
GCCACCTTATCAGAGTTGCTGGGAGGATTGAGTAAGATGATGTAAAGTGCCTAGCATGTAACAGGCACTTAATA-
AGTGGCAGCTGTGATTATTTCAACAC Celera SNP ID: hCV2783590 Public SNP ID:
rs6478486 SNP Chromosome Position: 122695150 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 34028 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,52|C,68) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON
Context (SEQ ID NO: 498):
CAAGTAGCACGTCGGGATTTGAATCCGGGTTAAAGGACTCCACGTCCAGTGCTCTTTCTATCCAAACTCCAGAG-
GGAGGGGACCCTGCTGACACCTTAAT S
TACCCTGGCCTCCCTGGAGGCTTTTCTCATTGGAATCCCAGAGTTACTAAGACTTATAAAGGATAGAACTGTCC-
CCTTAATCCCGGGCATGGGGGCTAAT Celera SNP ID: hCV2783591 Public SNP ID:
rs1468671 SNP Chromosome Position: 122697323 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 36201 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,51|C,69) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 499):
CCCACAGCCCACCCCTGTGAAGTGTTAGGCCTTTGGGAAGAAGGCCCAGGCTAGATGACTTGCTTTCAAGCCCC-
AGCGCTGCCACCTCCTAGCTTGTAGA K
ACCTCCTCGCCTTGGTCTTGTCATCTGCAAATATGCGGATTACGATCATATGTACTTGCCAGGGATATTGGGAG-
CTTGCTCACAGGCTCTCAGAAGCCCC Celera SNP ID: hCV2783597 Public SNP ID:
rs1860824 SNP Chromosome Position: 122699160 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 38038 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (G,47|T,69) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID
NO: 500):
AGAGTGAGACCCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAATATTAAATTCTCTTTCTGATACTAAGTCTTT-
GAAATCTGGTGTATATTTCAGACAGA R
CATCTCAATTTGGATCAGCCACATTTCACGTGTTGTGTGAGTTTCAAACAATCTCTCTAAGATTGTTTGTTTTG-
AGACGAAGTCTTGCTCTGTCTCCCAG Celera SNP ID: hCV2783599 Public SNP ID:
rs7046108 SNP Chromosome Position: 122700160 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 39038 SNP Source:
dbSNP; Celera Population(Allele,Count): Caucasian (G,51|A,69) SNP
Type: MISSENSE MUTATION;INTRON Context (SEQ ID NO: 501):
GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTGACTTCATTTTCTTAGTTTCTGTGT-
CTTTGCCTGGAAGAAGGGGCTAATGG Y
AGAATGTGATAACAGGATGTTAAGTGAAAAGGGAGAGCCCAAAACAGTAATCAATATGATTCTAATTACATTTT-
TAAAAGTCAATCTACATGTATGTGTT Celera SNP ID: hCV2783604 Public SNP ID:
rs10760126 SNP Chromosome Position: 122702439 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 41317 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(T,62|C,56) SNP Type: UTR5;INTRON Context (SEQ ID NO: 502):
CCTAACGATTTGAGCAATGGAGTCTGGCACAGGCTCAGCAGGTGGAGGAAGAGTAAGCTGTCAGGAAAGCAGCA-
GGGGAGAGTAGTAGGGTCCTGACTTG W
CTCAGGGTCTTTGGAAAGTTGGGTGTGGCCTCCAAGGTGAGAAGATAGGTGTGGGCCACCACCAGGCCATGACA-
GGCGGGCAGTATTGCCCAGGCTTCTC Celera SNP ID: hCV2783608 Public SNP ID:
rs4836834 SNP Chromosome Position: 122705722 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 44600 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(T,63|A,57) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;MICRORNA;UTR3 Context (SEQ ID NO: 503):
CCTCCTGGGGCAAGGCAGAAGGGCCAGAACAGAGAGGTCTTCTACTGAGGGGCTGTCATCGATGTCCTGAGACA-
TTTGTGGAGCTTCTGGTATACACAGC R
CAGACGGAGGTTCCCCTGAGAAGCCGATTGTCTAAAAGTGACACAAACCCTCTTCCCTGGCACATGCCCCTGAA-
ATGTCCATCAGGAAGCTGAATGGCTT Celera SNP ID: hCV2783611 Public SNP ID:
rs10435843 SNP Chromosome Position: 122707854 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 46732 SNP Source:
dbSNP; Celera Population(Allele,Count): Caucasian (A,51|G,69) SNP
Type: INTRON Context (SEQ ID NO: 504):
ACCTGTAGGGAAGACTGTTCAGCCAGGAACACCAGAACCCGGCTTGGGGATGGGATGGGAATGGCGGGATGTGG-
AGATTGATCTGCCCCAGATGTGTTTT S
CTGACCACGCCTCACTCAGGTGTGCGTCTGCATCTGAATGTGCTGCCCCCTGCCTGGCCTTCCTTTTCCTTATC-
CACCAGGAATCCAGCTCATATGGCCC Celera SNP ID: hCV2783620 Public SNP ID:
rs7021880 SNP Chromosome Position: 122713711 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 52589 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,68|C,46) SNP Type: INTRON Context (SEQ ID NO: 505):
ACTGAATGTTATAGCGATCCCTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGA-
TGGCTTGGGCCACATGACTTTGCACA Y
TGCTGTTCCCTTTGGCTATCTCCTTTCCACCCTTTAAGCTTCCACCCTTCCATGACCTTCCTTCAAAACAGGAC-
CTGGGCCCTTACTGTGATCCTGGGCA Celera SNP ID: hCV2783622 Public SNP ID:
rs758959 SNP Chromosome Position: 122716520 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 55398 SNP Source:
dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,51|T,69) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 506):
TTGGCTTGTGGTCCCTTCCTCCATCTTCAAAGCCAGCAGTGGAGCATCTCCCCTTCTCTCTGACCCTCATCTCC-
CTCTTCTGAGGACACTTGGGCCTCCT R
GATAATCCAAGGTCACCTCCCCATCTCAGAATCCTTCATTTAATCGTGTCTGCAGAGTCTGTTTTGCCATTGTT-
ATGGGCTCAGCAACCCCCACCCAAAT Celera SNP ID: hCV2783625 Public SNP ID:
rs10118357 SNP Chromosome Position: 122719889 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 58767 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,63|A,55) SNP Type: INTRON Context (SEQ ID NO: 507):
GGGTGCCTATAATTCTACCATGAATTATAGTGCCTTCACTTGGCTTAAGGCAGCAAGTTTCAAACTGTGCTCTG-
CAGGGCCCTAGGAGTCCCCAGAACCT Y
TTAGGGGCTCGGATAGGAGAAAGAAATGGGGCAATTAACAGGTCGGGGCTCCAGGATCCCCCTCCATCAGAATG-
CTTTTACTTTCATCTGATTGAAAAAG Celera SNP ID: hCV2783630 Public SNP ID:
rs2269060 SNP Chromosome Position: 122723390 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 62268 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,63|T,57) SNP Type: INTRON Context (SEQ ID NO: 508):
AGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAG-
TGTAAAGTTCCAAGAACATGCATTTG K
TCCTTACTCTTACTCTCTGAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCA-
GCTCTGGGTGGGACAGGAAATTCCCC Celera SNP ID: hCV2783633 Public SNP ID:
rs7021049 SNP Chromosome Position: 122723803 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 62681 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,63|T,57) SNP Type: INTRON Context (SEQ ID NO: 509):
CCAGGGTTCTAAATTGTAGCTCCTGAAAATGTCTCTCTGGCCTATCACACTTCCAAATGTGTCTCTTATTCCTA-
GAAGCACCGTTTGACAGAGCTCAGGA S
GTGAGCTGATAATGGTCTCTCCCCACCTAAAGGCAAACAGAGGCAGACAGAACCATCTAGATGAGGAGTTTGCT-
AACCTTTTTTATGTAAAGGGGTGGAT Celera SNP ID: hCV2783634 Public SNP ID:
rs1014529 SNP Chromosome Position: 122724764 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 63642 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|G,69) SNP Type: INTRON Context (SEQ ID NO: 510):
CACCATCCACTCTCCTGACAGCTCCAGAAGCCTCAACTATCAGCAGGGTGGTGATCATGTACGTCCACAATCCC-
AGAGCCACAGTTCCTAAATCGCAAAA S
TGCCGAGTATCCCACATTTTTTGGTAGTTTGCAGTGAGCTTCCTGGGCTGCCAAACCTGCCGTGACTGCACTGA-
CCGGAAGCTATTATAGCCCTTACTTG Celera SNP ID: hCV2783635 Public SNP ID:
rs1930780 SNP Chromosome Position: 122726040 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 64918 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|G,69) SNP Type: INTRON Context (SEQ ID NO: 511):
TCTTGTCTCATCTATCAAATGGAGAAGACAATCCCTACACATCTTTCCATCCTGCTTGGCTGCTACAGAGGTTT-
TGCAAACTTTCACAGTGGTTTCAGAT Y
ATGGGTTTTGAGGTCAGACAGAGCTGAGTTGAAATCCTGGGTCCACTGCTTACTAACTGTGGGCCCTGGGACAA-
AGTCCTTAACTTCCCTGAAACTCAGA Celera SNP ID: hCV2783638 Public SNP ID:
rs3761846 SNP Chromosome Position: 122729418 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 68296 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,63|T,57) SNP Type: UTR5;INTRON Context (SEQ ID NO:
512):
TCCTGCAGCCAGCCCTACCTGTTCCCTCCTTCCCCTGGTTTGGGATAAAACAGGCACCCAAGACTTCTCTCCCC-
ATCTGTGGGTCCCTTCTCTCCCCTCC R
GCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGCGCAACCTGCTCTAATAAGAAAA-
GGGAAAAATAGTACTACTTTTGGGTA Celera SNP ID: hCV2783640 Public SNP ID:
rs3761847 SNP Chromosome Position: 122730060 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 68938 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,62|A,58) SNP Type: UTR5;INTRON Context (SEQ ID NO: 513):
GCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCCGGCCTCAATACCACCCTCTCTACCTGC-
TCATTCCCACGGACATCAAAACGTGC S
CAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTACCGTCTTACGTAATTTTACAGACATCA-
TCTCATCTAATTTTCACTCTGTGAAG Celera SNP ID: hCV2783641 Public SNP ID:
rs2416806 SNP Chromosome Position: 122730113 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 68991 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (G,49|C,67) SNP Type: UTR5;INTRON Context (SEQ ID NO:
514):
AATCTCCATCTTGGTTCTTATTACACTTATAATAACTAGCATTTTTAAAAACGTGCCTGTTTACAGGTTTTTTT-
CTTTCTACCACAGAATTATGAATACA Y
GAAATTGTAGGAATATATGAAAATGTGTATAGGAATATATGAAATTAGATGAATTAAAACCATGAAAGTAAAGC-
TGTATCTGATTTCATTGTTGTTTCCC Celera SNP ID: hCV2783647 Public SNP ID:
rs10739580 SNP Chromosome Position: 122735103 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 73981 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,51|T,69) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 515):
GAATCTTGGGCTCACAATTCCCATCTGCATCCCTCCTTGGCCATCTATCCTTGACTGAGGTGTGTCCACTCCGC-
ACAACTTTCCCTTCCAGATAACATCC W
GCCTGAGGGAAGGGATACAGGAGGGTCTCAGTGCTATTATAATAGCAATTTGACCCCACTGTTAGCCTATTTAG-
GTCTGAAGCATTTACCAAATGCTTTC Celera SNP ID: hCV7577344 Public SNP ID:
rs876445 SNP Chromosome Position: 122716923 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 55801 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP
Type: INTRON Context (SEQ ID NO: 516):
AAACTGAGGCTCAGGGAGTCTACAAATCCTGGCCAAGGACAGTGGCAGAGGCGCTATCTGTCTCCAAAGCCCAG-
GTGTGGCCCTTCTGCTTGGAGCTCAG R
CTCTGTGATGGGAGTCTCTGGTCTGCCCCACTGGAGGAGGCAGGAGAGGCAGGGACTGGGGAGGATGGAAGGCT-
CACCCGCACAGCCAGTGCGAAGATGC Celera SNP ID: hCV8780517 Public SNP ID:
rs1056567 SNP Chromosome Position: 122671866 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 10744 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,43|G,77) SNP
Type: ESE;UTR3;SILENT MUTATION;INTRON Context (SEQ ID NO: 517):
GCCCCTGAAATGTCCATCAGGAAGCTGAATGGCTTCCCGTTGCCAACTGAAGCATCCTCACCCTGCACATTAGG-
ACCCCCTGCGGAGACTTCATCCTGAT K
CTCAGGCCTTATCACTTACGGGGGTGAGATTCTGTCACTGGTGTTTTAAAAATCTCCCCAGCACCTTTGGGAAC-
TGCCGGGGGTAGGAGAACCTACTGAC Celera SNP ID: hCV11266229 Public SNP
ID: rs10435844 SNP Chromosome Position: 122708020 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 46898 SNP Source:
dbSNP; Celera Population(Allele,Count): Caucasian (G,51|T,69) SNP
Type: INTRON Context (SEQ ID NO: 518):
CACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTTGGAAAAAAAAAAAAAAAAACAAAGCAGGAGAGG-
TCTGGCCAAAGTCCTGCAGGAAAGAC K
CATTCAAGATGAAGTAGTAAATCAGCACATGAGCCATAAGTGGGTCCAGGCCTCTGCCCCTCCCTTGCCCAGAG-
ATGTATGCCATGCCACTTTTGTCAGG Celera SNP ID: hCV11266268 Public SNP
ID: rs10760121 SNP Chromosome Position: 122687736 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 26614 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,52|T,68) SNP Type: INTRON Context (SEQ ID NO: 519):
ACCAAGAGGTTTATATTTGTTATTATAAGGACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATG-
ACACAGAAAACAGCTTTACAGACAAG Y
GAGCTGCGGCTTAGGGACATTAGCAGAGCACCAGACCACACAGTGAGACAGTGGCCTCACAGCCTCGAGGCTCT-
CCTCGGTGTGGATGGCTTTCCCCTGT Celera SNP ID: hCV11720413 Public SNP
ID: rs1930782 SNP Chromosome Position: 122727726 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 66604 SNP Source:
dbSNP; HGBASE Population(Allele,Count): Caucasian (C,63|T,57) SNP
Type: UTR3;INTRON Context (SEQ ID NO: 520):
TCCCAGCAAACGGTCTGAGGTGATGAGCAATGCTGTGGAAGGAGAGATATTCGTCTAACAGTTTGTCATTCACC-
AAGAGGTTTATATTTGTTATTATAAG R
ACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAGCGAG-
CTGCGGCTTAGGGACATTAGCAGAGC Celera SNP ID: hCV11720414 Public SNP
ID: rs1930781 SNP Chromosome Position: 122727655 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 66533 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,51|A,69) SNP Type: MICRORNA;UTR3;INTRON Context (SEQ ID NO:
521):
CACAAAATCTCCCAATCCTGGAGAGCACATTTTCAAGTCCCAAAGGGGCCCTAGGATTGTGCTACTTAACCATG-
TTCTGCCAAGAGAAGGTGTGTCCAAC R
CGGGTAGGGCTGATGATGGGAGCAGAACACTCCCACTAGCTTCTAAGCTGGCTGGGTCTGCCTTCAGGATGCTG-
GGGGACAGAGATGATAGAGCGAAGTG Celera SNP ID: hCV11720421 Public SNP
ID: rs1930777 SNP Chromosome Position: 122680989 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 19867 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 522):
CCACTAGCCAGGCAGGATAAGATGCCATGGAAGGATTTAGCTCCACTAGGATTTCACAGTGATGGTGGCCTTGG-
GAGGTGGGTGCTAGTTTTATCCTTCC Y
CAAAATGGGGAGCTCCTCCAAAAAGGAACCAGAATTTTAAGGTGGGGGTGGATGCTGGACAGATCATAAGTGAC-
AGCTAAACCTCTTGGAGCTATTGCCC Celera SNP ID: hCV15870898 Public SNP
ID: rs2072438 SNP Chromosome Position: 122691122 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 30000 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,64|C,56) SNP Type: INTRON Context (SEQ ID NO: 523):
GTTTATTCCCAGGTATCACACTTCAAGGAACACAGATAAACAGAAGCGCATTTACCCCAAATGCACAGAGACTG-
GGGAAAGACTGCTCAGTGTCTTTCCA W
GGAGGCAGGACTGACTCCAGGGATAGGAGGCTAAGTTGCCTTTTGTGACCTCAAGGGAGACAGACAGACTTCAG-
CTCAGTACAAAGAAAGAGGAGAATGT Celera SNP ID: hCV15875924 Public SNP
ID: rs2269059 SNP Chromosome Position: 122722293 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 61171 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 524):
AATGTGTATTAATTTTGTTAAGAGGAAAGAATAAAACAAGCTAAAAACAACAGTCCTAGAGCATTCAAGCAGGT-
AAGGGCCTTTTGCAAGTGAGGCATAG W
GGCTCACAGAGTTGAGGGTCTGCTTGTGTCTCACAGCCGATCCACCAAGAGCCAAACAGTGAGGCTCAGGGAGT-
TACTCCACGGAGCAGCATATCATATT Celera SNP ID: hCV15875965 Public SNP
ID: rs2191959 SNP Chromosome Position: 122723655 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 62533 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (T,108|A,12) SNP Type: INTRON Context (SEQ ID NO: 525):
ACATGGCACATGACTGTATCTTCATAAAGGCTTGTATCCAGAATATATAGAGAACTCTTACAACCTAATAAGAG-
ACAAATGACCTAATAAAAAATGGGCA Y
AGCCAGGCTCAGTGGCTCAACACCTGTAAGCTCAACACTTTGGGAGGCTGAGGCAAGAGGATTACTTGAGGCCA-
GGAGTTCAAGACAGCCTGGGCAACAT Celera SNP ID: hCV16124825 Public SNP
ID: rs2109895 SNP Chromosome Position: 122717648 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 56526 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,51|T,69) SNP Type: INTRON Context (SEQ ID NO: 526):
GGTCACATGGCCAATTCATTGCCAAACCAGGACTAGGACTCAGGCTTCCATGCTCCCCACCTTACCCCCATCAC-
CTTCACACCCATACCTTGTTCCGGAA R
GGCCACGGCAGCAGCGCATCATACTCCCCTCTCATGATCACGATGAAGAGCGACAGATGGGTTCTCTTTCCAGT-
GCCATCTCCATTCAGGTACAGCCGCA Celera SNP ID: hCV16175379 Public SNP
ID: rs2239657 SNP Chromosome Position: 122711341 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 50219 SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(G,50|A,70) SNP Type: SILENT MUTATION Context (SEQ ID NO: 527):
TCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACA-
TGCATTTGGTCCTTACTCTTACTCTC Y
GAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGA-
AATTCCCCTGAACTCTCTGAATGAGA Celera SNP ID: hCV29005976 Public SNP
ID: rs7037195 SNP Chromosome Position: 122723821 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 62699 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,63|C,57) SNP
Type: INTRON Context (SEQ ID NO: 528):
GCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGAGGGACCAGCTCAGAGAAAGGAGAAGGAGGT-
GTGGACACTCGCCTGCCTCTGGTCCA R
CGGTAGGGGGATAGCTGCCCTGCCAGCACTGCTATCACGGTCTGGACATCACAGATCCTGGAAAGGCCTTGCAG-
AGCTGACTTAATATCCTCATTTTACA Celera SNP ID: hCV29005978 Public SNP
ID: rs7021206 SNP Chromosome Position: 122723978 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 62856 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|A,64) SNP
Type: INTRON Context (SEQ ID NO: 529):
GCTGCATTGACTATTTGCGAGATATTTTGTCTTCTTGTTTTTTATCAATTAGGTCTACATACTACATTCAATTA-
GAGATTTTGATTGATATGATTAAAAC W
GTGTGATCATAAAAGACTGACTCAGATATAGTTAATTAAAGATACCTTTAAAGTTTTCCCCACGTTAAAATACA-
GAGGTGTCATTTTATTAATGAACTCC Celera SNP ID: hCV29006006 Public SNP
ID: rs7034390 SNP Chromosome Position: 122686309 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 25187 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,52|T,68) SNP
Type: INTRON Context (SEQ ID NO: 530):
TATTTCTTAGAAAAAAAAATTAAAATCTGAGGCAAGTATGACCAAGTGTCAAGATGTAACAGAGCTGGGTGGTT-
GATCCATAGTTGTTCTCTCTGATCCT Y
CTCCTTCTCAAGTCTAAAACTTTTCCATGTTTGAGATATTTGGTGATTTTAAAGGTGGGAGGGGCAGGAAGCTA-
TGAGGAGATTGCAGCAGAGGAGGTTT Celera SNP ID: hCV30830638 Public SNP
ID: rs10985073 SNP Chromosome Position: 122683676 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 22554 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (T,64|C,56) SNP
Type: INTRON
Context (SEQ ID NO: 531):
GGCCTCTAAGAGAGAATTTCTGCAATCTATGGGCAGGGGCCTCTAAGAGAGAATTTCTGCAATCTACGGGAGGT-
TGCCCAGATGTAGCCTCTGTGGGGCC W
TTCAATTCTACGGGAAAAGGATTCAAAGAGTTAAGTGTTTGAATTAAAAATTGATGGACTCGGCCGGGCGCGAT-
GGCTCACGCCTGTAATCCCAGCACTT Celera SNP ID: hCV30830725 Public SNP
ID: rs7864019 SNP Chromosome Position: 122732689 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 71567 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP
Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 532):
AGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGGAAATAATAA-
TCACATCACTGAATGTTATAGCGATC Y
CTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTT-
TGCACACTGCTGTTCCCTTTGGCTAT Celera SNP ID: hCV16175378 Public SNP
ID: rs2239656 SNP Chromosome Position: 122716439 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 55317 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,37|T,1) African American
(C,35|T,3) total (C,72|T,4) SNP Type: INTRON;PSEUDOGENE SNP Source:
dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,118|T,2) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 533):
CACTTCCCGCAGATGAGGATCTCATTCAGCGGCCCTGATGTCTTCCCTAGGCAGATGTTGCACTTGGGCTCCTC-
TCCTGGAACACCGGCTGAAAGAGAGG S
CCTCGAGGGTCGGGTCCAGCTCACAGGAATGGAAGTTTTATACTCACATTCCAGATGCCCAGCCTCTAATGTCT-
GCTAGGCCTAGCGCTGGGCCCCACAT Celera SNP ID: hCV25757804 Public SNP
ID: rs4836833 SNP Chromosome Position: 122672650 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 11528 Related
Interrogated SNP: hCV8780517 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780962
(Power=.7) Related Interrogated SNP: hCV25612709 (Power=.6) Related
Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP:
hCV2783582 (Power=.51) SNP Source: Applera
Population(Allele,Count): Caucasian (C,28|G,12) African American
(C,23|G,13) total (C,51|G,25) SNP Type: INTRON;PSEUDOGENE SNP
Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,43|C,77) SNP Type: INTRON;PSEUDOGENE Context (SEQ ID NO: 534):
AAAATTGCTTTTAGTCTACAGGTCCCCTCTCCATCTCTTTTTTTCTTTGCATTTTATTTTGGTTGAAGAATAAA-
TATGTTTTTATGTGTGAAAGGTTTGT R
TGTATACATTAAACACATTTTGATACGTGTTTGTCTTATTTCCCCAGCATGCTGAAAATTTTGTAAGGGTAGAA-
ATGGGATCTCTTCGGCCGGGCGCAGT Celera SNP ID: hCV1761881 Public SNP ID:
rs3933326 SNP Chromosome Position: 122673769 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 12647 Related
Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP:
hCV8780517 (Power=.7) Related Interrogated SNP: hCV8780962
(Power=.7) Related Interrogated SNP: hCV11720413 (Power=.51)
Related Interrogated SNP: hCV25612709 (Power=.51) Related
Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783625
(Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,44|G,76) SNP Type: INTRON Context (SEQ ID NO: 535):
ACTCTGCTAAGCTCTTAGGTCCATGATCTCATTTAATCCTCTAACCACTCTCATGCCAATTGTGTAGTGGAGGA-
GACCGAAGCTTGGACAGATGAGGCAC R
GATTAGAACCCTGAAGCTTGGGTTCTGAACCATGAGACAGTGTTGGTTTTTGTGTAGTTTTATGTTTGTATGGT-
TCTTTTTTTTTTTTTCTTTTTTTTTT Celera SNP ID: hCV2783593 Public SNP ID:
rs1548783 SNP Chromosome Position: 122698460 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 37338 Related
Interrogated SNP: hCV2783620 (Power=.9) Related Interrogated SNP:
hCV11266229 (Power=.8) Related Interrogated SNP: hCV11720413
(Power=.8) Related Interrogated SNP: hCV11720414 (Power=.8) Related
Interrogated SNP: hCV1761894 (Power=.8) Related Interrogated SNP:
hCV2783597 (Power=.8) Related Interrogated SNP: hCV2783608
(Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related
Interrogated SNP: hCV2783634 (Power=.8) Related Interrogated SNP:
hCV7577344 (Power=.8) Related Interrogated SNP: hCV30830725
(Power=.8) Related Interrogated SNP: hCV29006006 (Power=.8) Related
Interrogated SNP: hCV29005978 (Power=.8) Related Interrogated SNP:
hCV2783641 (Power=.8) Related Interrogated SNP: hCV2783638
(Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related
Interrogated SNP: hCV2783621 (Power=.8) Related Interrogated SNP:
hCV2783618 (Power=.8) Related Interrogated SNP: hCV2783604
(Power=.8) Related Interrogated SNP: hCV2783590 (Power=.8) Related
Interrogated SNP: hCV2783586 (Power=.8) Related Interrogated SNP:
hCV16175379 (Power=.8) Related Interrogated SNP: hCV15849116
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783589
(Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related
Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP:
hCV15870898 (Power=.7) Related Interrogated SNP: hCV16234795
(Power=.7) Related Interrogated SNP: hCV1761888 (Power=.7) Related
Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera;
HGBASE Population(Allele,Count): Caucasian (A,51|G,67) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 536):
GTCGGTACTCTTCCCTTTTCCCCATCCTCTGCATTTCACAATATTCTCAGGCTGAGCTTAAAGGCCTGAAGCCT-
TCCCTCCTTCACCAGCTGGATCTGGG R
TTCTGTGCTTTCTCTAAGCTTCTCCTACTCTCAATCATAATGATCTACTTATCTGCTCATTTCCTCCACTGAAC-
TAAGAGTTTCTTGAGTCCAGAGTGCA Celera SNP ID: hCV2783607 Public SNP ID:
rs9886724 SNP Chromosome Position: 122704840 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 43718 Related
Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP:
hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795
(Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related
Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP:
hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783625
(Power=.9) Related Interrogated SNP: hCV2783638 (Power=.9) Related
Interrogated SNP: hCV2783655 (Power=.9) Related Interrogated SNP:
hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783633
(Power=.9) Related Interrogated SNP: hCV2783604 (Power=.9) Related
Interrogated SNP: hCV2783620 (Power=.8) Related Interrogated SNP:
hCV2783653 (Power=.8) Related Interrogated SNP: hCV11266229
(Power=.7) Related Interrogated SNP: hCV2783590 (Power=.7) Related
Interrogated SNP: hCV11720414 (Power=.7) Related Interrogated SNP:
hCV2783597 (Power=.7) Related Interrogated SNP: hCV7577344
(Power=.7) Related Interrogated SNP: hCV30830725 (Power=.7) Related
Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP:
hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783634
(Power=.7) Related Interrogated SNP: hCV2783621 (Power=.7) Related
Interrogated SNP: hCV2783618 (Power=.7) Related Interrogated SNP:
hCV16175379 (Power=.6) Related Interrogated SNP: hCV1761888
(Power=.6) Related Interrogated SNP: hCV2783641 (Power=.6) Related
Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP:
hCV2783586 (Power=.6) Related Interrogated SNP: hCV2783589
(Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related
Interrogated SNP: hCV15849116 (Power=.51) SNP Source: dbSNP; Celera
Population(Allele,Count): Caucasian (A,60|G,54) SNP Type:
MICRORNA;UTR3 Context (SEQ ID NO: 537):
CTCACCTGGGCCAGGAGGCCTAGAATGAGAGACTTTCTGGGCTGGAAGGAAACTTAAAAGTCTTCAAATCCAAC-
CCCCAATTTGAAGTCCTAGTGGAGCC S
TCTGGGTTTGCTTGTTCACCTCCAATGACGAGCCTGGACAGACTGCATTCAAACTGGCACCCCATCCCTTCCAC-
CCGGTCCTGTTTCTGACCCTGGAGAA Celera SNP ID: hCV2783609 Public SNP ID:
rs2241003 SNP Chromosome Position: 122706598 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 45476 Related
Interrogated SNP: hCV2783620 (Power=.9) Related Interrogated SNP:
hCV11266229 (Power=.8) Related Interrogated SNP: hCV11720413
(Power=.8) Related Interrogated SNP: hCV11720414 (Power=.8) Related
Interrogated SNP: hCV16175379 (Power=.8) Related Interrogated SNP:
hCV16234795 (Power=.8) Related Interrogated SNP: hCV1761894
(Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related
Interrogated SNP: hCV2783586 (Power=.8) Related Interrogated SNP:
hCV2783597 (Power=.8) Related Interrogated SNP: hCV2783641
(Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related
Interrogated SNP: hCV2783634 (Power=.8) Related Interrogated SNP:
hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783625
(Power=.8) Related Interrogated SNP: hCV2783621 (Power=.8) Related
Interrogated SNP: hCV2783618 (Power=.8) Related Interrogated SNP:
hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783604
(Power=.8) Related Interrogated SNP: hCV7577344 (Power=.8) Related
Interrogated SNP: hCV30830725 (Power=.8) Related Interrogated SNP:
hCV29006006 (Power=.8) Related Interrogated SNP: hCV29005978
(Power=.8) Related Interrogated SNP: hCV2783590 (Power=.8) Related
Interrogated SNP: hCV25751916 (Power=.8) Related Interrogated SNP:
hCV15849116 (Power=.7) Related Interrogated SNP: hCV1761888
(Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related
Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP:
hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783589
(Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related
Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera;
HGBASE Population(Allele,Count): Caucasian (G,51|C,65) SNP Type:
MICRORNA;UTR3 Context (SEQ ID NO: 538):
GTCCCTCCACATGCTCTCCACTACAGCCACACACAGCCTCTCTCTTTCCCCGCGGGCCTACTCGGGTCTCCTCC-
TTGTGGCCATGGCGCTGGGCACCTGG Y
GTTGTGACTATCTGTTCACAGGGAGAGAGTCCAGTGCCTGTTTCTGTGTGGTGCGTGTGTGTACTCCTGTGAGA-
CTGGGCAGGATGATGTCTACGGCATT Celera SNP ID: hCV16186951 Public SNP
ID: rs2297574 SNP Chromosome Position: 122678090 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 16968 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(T,118|C,2) SNP Type: UTR5;INTRON Context (SEQ ID NO: 539):
AGAGACTGTGGCAGGCAGGCATACACACGCACATGCTCGCAGGATGGCTGGCTTACCCAAGATTTCAAAAGAAG-
TTGGAAATCTGGATTTTTATGTGAAA Y
GACTTGATTTTTAGAACACCCTATAAGCCAAAAAATAAACCCAAACCAAATGAGCATCCCTATGAACTGTGTCT-
GTGGGCCACTATTTGTGACCTCTGGT Celera SNP ID: hCV29005991 Public SNP
ID: rs7863127 SNP Chromosome Position: 122737851 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 76729 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,118|T,2)
SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 540):
TCTGAACCGCTGCACAAACCACCACCCAGATGCCTGCACTCTGAATTAAAATTGCCAGTTACTTTGCATCCTTC-
TCTAAACTAAGCTTTATGAATTTAGA S
ACTGTGTTTCATTTGCTGGTGCATCCCATCACCTGGCACTATGCCCAGCAGAGCACAGAAGGTGCTCAATACGT-
ACTGGTGGGATTGTACCCACAGGCTC Celera SNP ID: hCV29005993 Public SNP
ID: rs6478491 SNP Chromosome Position: 122738311 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 77189 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,118|C,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 541):
GCACTGTCCTCCCAACCTTGTGGGCAGTTGCAGATGGGACCTGCCCCAGGCTGCTTTACAGATGGGAACCTAAG-
TCAGATGGTGGTAGTGAGGAGAGGTT R
GAGGATACTGGCCCATTGCAAGTGTGTGCCAGTGTTATTACTAGCAAGGGATCTTTTGTGATTTTTTTTTACGT-
TTTTGAAAATAAAAGAATAAATAGCT Celera SNP ID: hCV30830801 Public SNP
ID: rs10985095 SNP Chromosome Position: 122738904 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 77782 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (A,118|G,2) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 542):
TACACACCAGCCATAGGCATAGATACACAAGGGGGAACACACTGTACACAACAGAGACACACAACAGAACATGC-
ATGTAAGGTAGACGGACATAACACAT R
AAGTCACAACACAGACGGGCAAGAGACACAAGTTTTCCTGAAAAAGTGGCATTCAGATAGGTTGTGGAAATAGG-
TTAGTGGGTGTGCCAGGTGGAGGGAA Celera SNP ID: hCV30830909 Public SNP
ID: rs11794516 SNP Chromosome Position: 122680051 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 18929 Related
Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP:
hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795
(Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related
Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP:
hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783604
(Power=.9) Related Interrogated SNP: hCV2783633 (Power=.9) Related
Interrogated SNP: hCV2783638 (Power=.9) Related Interrogated SNP:
hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783625
(Power=.9) Related Interrogated SNP: hCV2783653 (Power=.8) Related
Interrogated SNP: hCV2783655 (Power=.8) Related Interrogated SNP:
hCV11266229 (Power=.7) Related Interrogated SNP: hCV2783590
(Power=.7) Related Interrogated SNP: hCV7577344 (Power=.7) Related
Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP:
hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783621
(Power=.7) Related Interrogated SNP: hCV2783634 (Power=.7) Related
Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP:
hCV11720414 (Power=.7) Related Interrogated SNP: hCV16175379
(Power=.6) Related Interrogated SNP: hCV30830725 (Power=.6) Related
Interrogated SNP: hCV2783641 (Power=.6) Related Interrogated SNP:
hCV2783618 (Power=.6) Related Interrogated SNP: hCV1761888
(Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related
Interrogated SNP: hCV2783586 (Power=.6) Related Interrogated SNP:
hCV2783597 (Power=.6) Related Interrogated SNP: hCV2783589
(Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related
Interrogated SNP: hCV15849116 (Power=.51) SNP Source: dbSNP
Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: MISSENSE
MUTATION;ESS;INTRON Context (SEQ ID NO: 543):
TCTGGAGTCAGCCTGGTACCATACTCCAAGCGTACAGAATTCTTTGGAGACTGAGCCAGAGCGTAGGATGGCAA-
TGTGAAGCAGCATGCTCTGAGGAAGA Y
GTGAAGGCGCTGGGGCTTTTAGCCTGAAAAGGGAAGCACTCAGGTAGGACAGAATCTGACCCTCCATCCCTGAA-
GGGCTGTCATGGGGACTAGAAGGTGG Celera SNP ID: hCV30830577 Public SNP
ID: rs6478488 SNP Chromosome Position: 122714954 SNP in Genomic
Sequence: SEQ ID NO: 86 SNP Position Genomic: 53832 Related
Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,116|T,2) SNP Type: INTRON
Gene Number: 10 Gene Symbol: hCG2042142 Gene Name: Chromosome: 9
OMIM NUMBER: OMIM Information: Genomic Sequence (SEQ ID NO: 87):
SNP Information Context (SEQ ID NO: 544):
CAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTTCTGTAATCTTTCAGGTTGCTGTGAT-
CAGTCCCCAAGGAGTCTACACTCTCA M
AGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGTGTAACTCTGCCTGTGTTTGCATGCC-
ACCTCCAGAACCACTAAAATATAATT Celera SNP ID: hCV1452662 Public SNP ID:
rs10985051 SNP Chromosome Position: 122647701 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 10731 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,93|C,19) SNP Type: UTR5;UTR3;INTRON Context (SEQ ID NO: 545):
TGTGCTATCTTCCCAGGTGGTGCAGACACCCCCTCCCTCCTTTTCCCTCTCCAGGCCCACAGCCTCCCCAGAGC-
CCAGGTAGGGAAGGTCCAGATGTACT R
TAACAGGATTGCTCATCCCAGGCTATCTCAGAAGTCTGGAAAGCAGGCCTAGAAGGTTGCTGGGCTCTCTGAAG-
CCAGGCAGGAAGCTACAAATTGGATC Celera SNP ID: hCV8780962 Public SNP ID:
rs1837 SNP Chromosome Position: 122658050 SNP in Genomic Sequence:
SEQ ID NO: 87 SNP Position Genomic: 21080 SNP Source: dbSNP;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(A,39|G,81) SNP Type: MICRORNA;UTR3 Context (SEQ ID NO: 546):
CTCACTGCTGGTTTTGTGTGTGTGTGTGTGTGATTTAAAATTACATTCAGTCAACTCTATAGCCCTATGGGCTT-
TTTGAATAACCAAATGCTCAACAGTT Y
TGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCAAAGAGACTGGGAAAGGCCTGTGAG-
ACAATGGGATTCTTTTTTCTAGAGGT Celera SNP ID: hCV8780967 Public SNP ID:
rs933003 SNP Chromosome Position: 122647650 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 10680 SNP Source:
dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (C,115|T,5) SNP Type: UTR5;UTR3;INTRON Context (SEQ ID
NO: 547):
GGAGGTCGAGGCTTCAGTGAGCGGTGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGCTTT-
CCCCTCTTGTCCTCCACTACCCTCAG R
AAACCAAGAAAGACCAGCGTGGAGAGTTGGTCGCCCATCTGCTCTAAGCTGCTGTGTATTCCCCTGTAATGTAA-
ACATCGTGAAGGTGGAGACCCAGTTA Celera SNP ID: hCV26144018 Public SNP
ID: rs10739575 SNP Chromosome Position: 122645922 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 8952 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,29|A,91) SNP Type: UTR3;INTRON Context (SEQ ID NO: 548):
CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTA-
AAGTAAACCCTACCTAAAATGTACTG K
GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCT-
TCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528 Public SNP
ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 17724 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP
Type: UTR5;PSEUDOGENE Context (SEQ ID NO: 549):
TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATA-
AGCTATATAATGAAAGCTACCTTTTT Y
TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTA-
TCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665 Public SNP ID:
rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 13139 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898
(Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51)
Related Interrogated SNP: hCV2783604 (Power=.51) Related
Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP:
hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638
(Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51)
Related Interrogated SNP: hCV8780517 (Power=.51) Related
Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608
(Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)
Related Interrogated SNP: hCV16234795 (Power=.51) Related
Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera;
HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian
(C,58|T,62) SNP Type: INTRON Context (SEQ ID NO: 550):
CCCAATTTTGGTTTCCCTCCAGATGAGGCAGAATTTGAATGTTGGTTCCAAAAATTCTCTTTCAAACCCCCACT-
GGCAAGGGCTTCCCTTTGAGGGAACC R
AATGATGCAGGCTCTTTAAAAATTTCAACCTATCCCAAAAAGTGATTGTCCATTTCAGGGCAGGGCAAGGGATA-
TGAAAGAGGGTGAGTCCCCTGTGCTT Celera SNP ID: hCV8780961 Public SNP ID:
rs914842 SNP Chromosome Position: 122658792 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 21822 Related
Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) Related Interrogated SNP: hCV25612709
(Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) SNP
Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):
Caucasian (A,30|G,90) SNP Type: MICRORNA;UTR3 Context (SEQ ID NO:
551):
AATCAAAAATAAAAGTTGTCCTACTATTTTCAGACCCACTTCCCTATTAATAGTTTCTGGTGTACCTTTGCAGA-
TATTTGCAATGTTATACAAGTTTTAC M
TGCCTGTGGGGGTTGGGAAGATTGTAATCCTTTTTAAAAATTACAGGTTAAAATTATAGATTGATATACCCTGC-
GATTTTCTTTTTCATTCAACAACACA Celera SNP ID: hCV30829523 Public SNP
ID: rs12343516 SNP Chromosome Position: 122643290 SNP in Genomic
Sequence: SEQ ID NO: 87 SNP Position Genomic: 6320 Related
Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP:
hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916
(Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)
Related Interrogated SNP: hCV2783633 (Power=.51) Related
Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP:
hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582
(Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP
Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(A,57|C,63) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Gene
Number: 11 Gene Symbol: FBXW2 - 26190 Gene Name: F-box and WD
repeat domain containing 2 Chromosome: 9 OMIM NUMBER: OMIM
Information: Genomic Sequence (SEQ ID NO: 88): SNP Information
Context (SEQ ID NO: 552):
AAGTCACTGTACATATCTCATATAATCAACACTTGTCATTCTCAAAGCTCAAGACTGGTTCAAGATTACACCCT-
ATGAAATACAAAACAAAACCCAAAAA R
CAGTTTCAACATCTCTTACCTGTACAGAGAAGTCCATCTTTGTAGTAAAGTGCATACACTCTGGCACTGTGTCC-
AATTAATGACGAGGTTTCAAAGGCTT Celera SNP ID: hCV25612709 Public SNP
ID: rs7026635 SNP Chromosome Position: 122589848 SNP in Genomic
Sequence: SEQ ID NO: 88 SNP Position Genomic: 33577 SNP Source:
Applera Population(Allele,Count): Caucasian (A,8|G,2) African
American (A,15|G,7) total (A,23|G,9) SNP Type: MICRORNA;UTR3;INTRON
SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(G,40|A,80) SNP Type: MICRORNA;UTR3;INTRON Context (SEQ ID NO:
553):
GATGCCACTAATCTTGTGAATAATGCTGCATTGAATGTGGGGAGTGCAGATATCTCTTTAACATACTGATTTAA-
TATCTTTTGGATATATTTCCAGTAGC R
GAATTGCTAGATTGTGTGGCAGTTCTATTTTTAATTTTGTGAGGAACCTCCATAATGGCTGTATTATTGGTTTA-
CCATAATGGCTCATTGTGGTTTTACT Celera SNP ID: hCV1452636 Public SNP ID:
rs10985044 SNP Chromosome Position: 122603331 SNP in Genomic
Sequence: SEQ ID NO: 88 SNP Position Genomic: 47060 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,100|A,18) SNP Type: UTR5 Context (SEQ ID NO: 554):
TGCTTGATAGCACAGTCCAATAATATAGACAATAAGAGAGACACATATCCAGTAGATGGTAGAGCATGGCCAAG-
GTTCCAAGCATCCTGACTTCATTTAG R
GTACTTGAAACATGGGAAATAAAAATTGATTATGTGGGGTGGAAGTCAACTACGGTGTCCTAAAAGTAAGGTCT-
CAAGAGAGCAAATTTGATTTGCTAAG Celera SNP ID: hCV8780973 Public SNP ID:
rs1577001 SNP Chromosome Position: 122597128 SNP in Genomic
Sequence: SEQ ID NO: 88 SNP Position Genomic: 40857 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,118|A,2) SNP Type: INTRON Context (SEQ ID NO: 555):
ACAGAGGGAAAGAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAGATAAGTAAAGATAGG-
AATTGTGATTCTCCAATGGTTAAGAG Y
GAGCTTTGGGGCTGGGCACGGTGGCTCTCACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACC-
TGAGATCAGGAGTTTGAAACCAGCCT Celera SNP ID: hCV30829490 Public SNP
ID: rs7873274 SNP Chromosome Position: 122599313 SNP in Genomic
Sequence: SEQ ID NO: 88 SNP Position Genomic: 43042 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,14|T,106) SNP
Type: INTRON Context (SEQ ID NO: 556):
TTTATATACATACACACACACACACACACACACACACACACACACACACACATACACACACACACATATATACA-
TACATGGAATGGAGTTATTCAGCCTT R
AAAAGGAATAAAATTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAGG-
ATCACCTGAGGTCAGGAGTTTGAGAC Celera SNP ID: hCV16234804 Public SNP
ID: rs2416800 SNP Chromosome Position: 122583824 SNP in Genomic
Sequence: SEQ ID NO: 88 SNP Position Genomic: 27553 Related
Interrogated SNP: hCV22272588 (Power=.9) SNP Source: dbSNP; HapMap;
HGBASE Population(Allele,Count): Caucasian (A,65|G,55) SNP Type:
INTRON Gene Number: 12 Gene Symbol: LOC402377 - 402377 Gene Name:
similar to UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase,
polypept ide 4 Chromosome: 9 OMIM NUMBER: OMIM Information: Genomic
Sequence (SEQ ID NO: 89): SNP Information Context (SEQ ID NO: 557):
AAGTCACTGTACATATCTCATATAATCAACACTTGTCATTCTCAAAGCTCAAGACTGGTTCAAGATTACACCCT-
ATGAAATACAAAACAAAACCCAAAAA R
CAGTTTCAACATCTCTTACCTGTACAGAGAAGTCCATCTTTGTAGTAAAGTGCATACACTCTGGCACTGTGTCC-
AATTAATGACGAGGTTTCAAAGGCTT Celera SNP ID: hCV25612709 Public SNP
ID: rs7026635 SNP Chromosome Position: 122589848 SNP in Genomic
Sequence: SEQ ID NO: 89 SNP Position Genomic: 4837 SNP Source:
Applera Population(Allele,Count): Caucasian (A,8|G,2) African
American (A,15|G,7) total (A,23|G,9) SNP Type: MICRORNA;UTR3;INTRON
SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian
(G,40|A,80) SNP Type: MICRORNA;UTR3;INTRON Context (SEQ ID NO:
558):
GATGCCACTAATCTTGTGAATAATGCTGCATTGAATGTGGGGAGTGCAGATATCTCTTTAACATACTGATTTAA-
TATCTTTTGGATATATTTCCAGTAGC R
GAATTGCTAGATTGTGTGGCAGTTCTATTTTTAATTTTGTGAGGAACCTCCATAATGGCTGTATTATTGGTTTA-
CCATAATGGCTCATTGTGGTTTTACT Celera SNP ID: hCV1452636 Public SNP ID:
rs10985044 SNP Chromosome Position: 122603331 SNP in Genomic
Sequence: SEQ ID NO: 89 SNP Position Genomic: 18320 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(G,100|A,18) SNP Type: UTR5 Context (SEQ ID NO: 559):
TGCTTGATAGCACAGTCCAATAATATAGACAATAAGAGAGACACATATCCAGTAGATGGTAGAGCATGGCCAAG-
GTTCCAAGCATCCTGACTTCATTTAG R
GTACTTGAAACATGGGAAATAAAAATTGATTATGTGGGGTGGAAGTCAACTACGGTGTCCTAAAAGTAAGGTCT-
CAAGAGAGCAAATTTGATTTGCTAAG Celera SNP ID: hCV8780973 Public SNP ID:
rs1577001 SNP Chromosome Position: 122597128 SNP in Genomic
Sequence: SEQ ID NO: 89 SNP Position Genomic: 12117 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,118|A,2) SNP Type: INTRON Context (SEQ ID NO: 560):
ACAGAGGGAAAGAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAGATAAGTAAAGATAGG-
AATTGTGATTCTCCAATGGTTAAGAG Y
GAGCTTTGGGGCTGGGCACGGTGGCTCTCACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACC-
TGAGATCAGGAGTTTGAAACCAGCCT Celera SNP ID: hCV30829490 Public SNP
ID: rs7873274 SNP Chromosome Position: 122599313 SNP in Genomic
Sequence: SEQ ID NO: 89 SNP Position Genomic: 14302 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,14|T,106) SNP
Type: INTRON Gene Number: 13 Gene Symbol: STOM - 2040 Gene Name:
stomatin Chromosome: 9 OMIM NUMBER: OMIM Information: Genomic
Sequence (SEQ ID NO: 90): SNP Information Context (SEQ ID NO: 561):
CTAAACTGCCACTTTTTAACGGACACTTTTTTCCTTCTGCCTTCACAGAGTGCAAATAAAACACTTCATGTTGT-
AAATTGATGAGAGCAGTCCTGCCTGG R
TGGGGCAAGACAGAAAGGCTGGAAGTTTAGTCTCAAAAACACATGCTATTCAGTTGCAGCAGCACTTTTTAGGG-
GTAACAGTAGGCCAAATTGAAAAGTC Celera SNP ID: hCV1434291 Public SNP ID:
rs17086 SNP Chromosome Position: 123165341 SNP in Genomic Sequence:
SEQ ID NO: 90 SNP Position Genomic: 34167 SNP Source: dbSNP;
Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,76|G,42) SNP Type: INTRON Context (SEQ ID NO: 562):
CAGCTGATTTACTTTCAGATCTATTAACCTTAGCACTACTGGAAATCATGTGGAGTAATAAATCCACTCATCAC-
TGAGATTTTATTATTGTAAAGTTCAA M
AGATAACTGGATTTCCTCTGCTGAGAATCTGACTGTGAGTCATAAGCATTATCCTACACAATAAGAAAGGATGG-
GCTAAGGAATTACTGAAATACCTAAA Celera SNP ID: hCV1434292 Public SNP ID:
rs12554081 SNP Chromosome Position: 123165145 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 33971 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(C,106|A,14) SNP Type: INTRON Context (SEQ ID NO: 563):
AGTGAAGAACACATCAGTTCCTTCAGAAACCCTGAGGCTTCTCAAAGAAGGCTCTCCTCTGTTCCAGGAGAAGG-
AAGGGACAGATGAGAAGTCACTTCAA S
TTCCCAGAATACTCAGAAGCTGAACTTGTCAAGGTTTAGATGTGGCAAAGCAGGCCAGGCATGGTGACTCATGC-
ATGTAATCCCAGCATTTTGGGAGGCC Celera SNP ID: hCV7577155 Public SNP ID:
rs1560980 SNP Chromosome Position: 123133818 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 2644 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(G,114|C,6) SNP Type: TRANSCRIPTION FACTOR BINDING
SITE;MICRORNA;UTR3;INTRON Context (SEQ ID NO: 564):
GATCCCTGGACAAGGGAAATGGAACTTATAGCTAAGATGCTGTGGATAAAGCTGGCTTTACAAATAATCAGAAT-
AGATGACTCCAATGTCATGTTCTTTG M
GGGGTCCTGGAAAGGACCACCCAGCCCTCTAAATTGCTTTCACTGCCATCCTGCCTGAAATTCCATCTTTAGAA-
ACACTGTAATTCCTCTGGATCACTAA Celera SNP ID: hCV8605400 Public SNP ID:
rs367395 SNP Chromosome Position: 123171333 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 40159 SNP Source:
dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,8|C,112) SNP Type: INTRON Context (SEQ ID NO: 565):
CGTAGCCCTGTTCCTTCCTGTGTTCCTGAGCAGGGTGGTGGAGAGCCCACGTGGGTATCATGCCTTTAAAGGAG-
GATGGTGCCCAGGGCAGGGGGTGGGC W
GTAGGGACAGTAGGACCATAGACCCTCTTCTTTGTCAACTCCTGTCCTGAGTCACCCTCTCCCTGGTGTGGGAG-
GCACTAAGAATTCCTGGGGTTTCCTT Celera SNP ID: hCV29005979 Public SNP
ID: rs7039494 SNP Chromosome Position: 123134411 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 3237 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (A,100|T,12) SNP
Type: INTRON Context (SEQ ID NO: 566):
AAGGCAAACACTTAACAATGTTATTTACTCCAGGGGGATTTTTATCTCCCTGCCTGCTTCCTTTTTCTTTGAAC-
AAATGTTTTTGTATACCTACTATGTA Y
TTGATACTGGGCTACTACAGTGAAGAAGGACACAATCTCTATTTTCAAAAGTGTGGTCTAAAGGCCAGGCTTGG-
TAGCTCATGCCTGTTGTCCCAGCACT Celera SNP ID: hCV30830686 Public SNP
ID: rs10818531 SNP Chromosome Position: 123168845 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 37671 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,5) SNP
Type: INTRON Context (SEQ ID NO: 567):
AAAAAAGAAGCCAAAAATAAGTAAGAGATGGGTGGTATGGATGGAATGATGACCCACTTGCTCCGAAGTTGGAA-
CTGTTAATTTGACCTTAATATGGAAT Y
GGGAGAATAAGTATGGTACACACAGTCATAAAAGAATGAGGTAACTCTACATGTACTGATACGTCCATAGATAT-
TAATATTAAATGAAAAAAGCAGAGCG Celera SNP ID: hCV30830668 Public SNP
ID: rs12340264 SNP Chromosome Position: 123149742 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 18568 SNP Source:
dbSNP; HapMap Population(Allele,Count): Caucasian (C,109|T,11) SNP
Type: INTRON Context (SEQ ID NO: 568):
GTGCTCGAAAATGGTTAAAAATAATGAAAGCACCTAGGCCACAGCAGAACCTAGTATTCAACCACGGAGGCAAA-
GGCCCAATGTACTGTGGATCAGAAAG R
ATGTTTTTGGCTGTAAGCAGTGGAGGGCTAACTCAAACCAAATTAAACTGTAAGCACACTTATGTGCTCTCATA-
CATAATCAGTTCAGAGTTGAGGGGGA Celera SNP ID: hCV578200 Public SNP ID:
rs767769 SNP Chromosome Position: 123138157 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 6983 Related
Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera;
ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,75|A,45) SNP
Type: INTERGENIC;UNKNOWN Context (SEQ ID NO: 569):
CAAAAAGAATAAGGAAAGTAAATAAGCATAAATGTCTTATTTCCTAAATATTTTAAGGATTTTCTGTAGTTTTC-
CTGCATTCAAATGTTTCAGGCCATAC M
AGAGGAAAAAAATAGGTGAGAGCAACAGCAATAATTTTAAATTTGGACCTCTCAGTCTAAAATAATGCTGCAAT-
AGCCCTTTACCCTTTTAAAACAACAT Celera SNP ID: hCV1434290 Public SNP ID:
rs2416829 SNP Chromosome Position: 123166826 SNP in Genomic
Sequence: SEQ ID NO: 90 SNP Position Genomic: 35652 Related
Interrogated SNP: hCV30830641 (Power=.51) SNP Source: dbSNP;
Celera; HapMap; HGBASE Population(Allele,Count): Caucasian
(A,75|C,45) SNP Type: INTRON Gene Number: 14 Gene Symbol:
hCG2021450 Gene Name: Chromosome: 9 OMIM NUMBER: OMIM Information:
Genomic Sequence (SEQ ID NO: 91): SNP Information Context (SEQ ID
NO: 570):
GAAGTAGGAGTTTGTTGACTAGCTGGTAGGCAGGAAGGGTTTTCTAGTTAGCAACTTAGCAAGGACAGCTTTGT-
GAAGGAGCATGGAACATCCAGGCAAC R
TGAGTGGACCAGTTAGGAGCTACTGAAATATTCCCATCAAAATACAGGGGCGTACCCCTGGGGCAAGATGACTC-
TCTGACGTCCACTTACTACTATTCTC Celera SNP ID: hCV3121923 Public SNP ID:
rs10985014 SNP Chromosome Position: 122538111 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 17601 SNP Source:
dbSNP; Celera; HapMap Population(Allele,Count): Caucasian
(A,104|G,16) SNP Type: INTRON Context (SEQ ID NO: 571):
TGGAAACCCAAACTGCACAAATCAATCAGTTTCTCCCTGCAGCCCTGTTGATGAAAACTGGAAGAGTTCAAGAA-
ATAGTTATGTAAAATTTAAATAAAGT Y
CATGTTCTTTTTTGTGGGTATTTGTGTGCTTAAGTAATGTAAGTATCATAATCCCTAAGAAAATACTTTCTAAC-
TTTTAAACATTGTTCACTATAAAATT Celera SNP ID: hCV3121925 Public SNP ID:
rs4836831 SNP Chromosome Position: 122536391 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 15881 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,40|T,76) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 572):
CTAATCCAAACATTCTTCCAGGAAGACACACCAAGGCTCAGAGCAGGAAAGGACTCATTCAAGCTCACATGATA-
ACTTGGCAGCAGAACCAGGCCTGGAA Y
GCATATTTCTTCTTGGTGCTGCATTCCTGATTCAGAAGAGCAGCTCTCCCTGCTAAGCAAACAGCAGGTGGGCG-
GATGTGGTCACTAATCAGTGCACTGG Celera SNP ID: hCV3121928 Public SNP ID:
rs10985009 SNP Chromosome Position: 122532860 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 12350 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap
Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: INTRON
Context (SEQ ID NO: 573):
AGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCCCCTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGT-
GACATTCAACCTGAAAGCAAAAGGAG W
CAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGACTTTGAAGTTGGAAAGAAACAGAAAGGAAACCAGAA-
TGGGTGAAGCATATTAAGTGAAGGAG Celera SNP ID: hCV3121936 Public SNP ID:
rs735110 SNP Chromosome Position: 122528761 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 8251 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,41|A,79) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ
ID NO: 574):
AATCAATTAACAAATAAATGGGTAAATAATCAAGATATTTACAGATTAAGCAAGTGCTACGAGGGAGATAAAAA-
TGGTGCTGTGACACAGAATAATATCC Y
CTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAGTCAACTCTACCAAC-
ACTGGAAGGAACAGCAAGTGCAAGAC Celera SNP ID: hCV3121937 Public SNP ID:
rs735109 SNP Chromosome Position: 122528700 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 8190 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (C,41|T,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 575):
TTTATTGGGTGTGTGCAATGTGTCAGGTGCAGTCTGGAATTTGGAACTGTCACATACTGGCAGCATGACCTCTT-
TAAGAGGCAGGAACTTGTTATCTCTG Y
CATCCGGTCCCATGTTGGGGAACTATCTATGAATCAGCCAAGATGGGTTCCCAGCCCTCCATCCATCTCCCTTC-
AAGGCAAAATGGTCTAATGGGAAAAG Celera SNP ID: hCV3121938 Public SNP ID:
rs747819 SNP Chromosome Position: 122528262 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 7752 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE
Population(Allele,Count): Caucasian (T,41|C,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 576):
GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACT-
GATTTCTCACTTTATTAGTCAGCACC K
AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATC-
ATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944 Public SNP ID:
rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 177 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|T,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 577):
AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGA-
CTGGCACTTTTCCTATTTGCCCCAGA R
CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGG-
CCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945 Public SNP ID:
rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 7 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE
Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
INTERGENIC;UNKNOWN Context (SEQ ID NO: 578):
ACATCTGCAAGTCCTCAAGGAGACAAGACCTGCCCCCTTATCACCTCTTCGGGGGAGAGAGTGGGCCTATCCCA-
TCTGCAGGGAAAGAATGAACACATTG Y
TTTTATTTTCCAAGGTGTGTTCCTGTAAATGAAACAATTCACTGCTATGCAACTTTTAGGATTGGCCACTTGAG-
AGCAGGCCTTGTACTGGACAATGGGG Celera SNP ID: hCV15849071 Public SNP
ID: rs2900177 SNP Chromosome Position: 122537466 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 16956 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE
Population(Allele,Count): Caucasian (C,34|T,64) SNP Type: INTRON
Context (SEQ ID NO: 579):
CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTA-
TGGCTGCCAGGAGTCCCTTATAGATG R
CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGG-
CTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244 Public SNP
ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 2870 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 580):
TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAA-
GGTAGCAGTGGTAGCAGGCTATGGTG R
TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCA-
GTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245 Public SNP
ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 2932 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val
Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE
MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO:
581):
GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCC-
AGGCCTTGCAGGGTTTTGGGGCCTGC R
TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGAC-
GAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246 Public SNP
ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 2979 Related
Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP:
hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val;
HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type:
MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO: 582):
ACTTTCACAAGCATGGTCAAGGAAGCCATCTGGGAGAAGGTACACATTGAGCTGAGGCCTGAATGAGAACGAGG-
AGGCAGGCTGGGGAAGACCAGGGAGA S
AGAATGGTAAATGCAAAGTCTCATAGACAGACACAAGCTTCGTATGTGTTTGAGAGGGAGAAAAAAGCTGGAAT-
GGGTAGAATATAGCAAATGAGAGAGA Celera SNP ID: hCV29005915 Public SNP
ID: rs7044106 SNP Chromosome Position: 122533883 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 13373 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (C,34|G,78) SNP Type: INTRON
Context (SEQ ID NO: 583):
CACACTCATAATGACAGAGCCAGGCTTTAATCGCATGCATTTTGGCGCTGGAAACTATGCTCCAAACACCGCAA-
GAAACTGCCTCACTGTGGGACGTCAC Y
GCACATTTAGGGGCGGACAACAGGTGCAGGAGGTATAAGGTGTAGGAAGGTAGGAACTGATGGGAGGTCACGTA-
AATGACATGAAAGTATTTTGCAAACT Celera SNP ID: hCV30830283 Public SNP
ID: rs10818474
SNP Chromosome Position: 122529785 SNP in Genomic Sequence: SEQ ID
NO: 91 SNP Position Genomic: 9275 Related Interrogated SNP:
hCV1917481 (Power=.6) Related Interrogated SNP: hCV22272588
(Power=.6) SNP Source: dbSNP; HapMap Population(Allele,Count):
Caucasian (C,31|T,89) SNP Type: INTERGENIC;UNKNOWN Context (SEQ ID
NO: 584):
GAAAAATGTAGAGATGTGGGTACAGATTTGTATAAAGGCTGGTTGTCGAAGCCTTACTTATGCTAAAAAATAGA-
ACTAACCTAAATATCCAATGGGGATT R
TTTAAATGAATTATGATTCAACCTTCCACAGAGATTAGAATCATGCTCTTGAAGAACACTGATGATGTAAAAAG-
TCTGCTAACATATTAAGTGAGAAAGC Celera SNP ID: hCV30830295 Public SNP
ID: rs7033339 SNP Chromosome Position: 122543259 SNP in Genomic
Sequence: SEQ ID NO: 91 SNP Position Genomic: 22749 Related
Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP:
hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap
Population(Allele,Count): Caucasian (G,44|A,76) SNP Type:
TRANSCRIPTION FACTOR BINDING SITE;INTRON
Sequence CWU 0 SQTB SEQUENCE LISTING The patent application
contains a lengthy "Sequence Listing" section. A copy of the
"Sequence Listing" is available in electronic form from the USPTO
web site
(http://seqdata.uspto.gov/?pageRequest=docDetail&DocID=US20110293626A1).
An electronic copy of the "Sequence Listing" will also be available
from the USPTO upon request and payment of the fee set forth in 37
CFR 1.19(b)(3).
0 SQTB SEQUENCE LISTING The patent application contains a lengthy
"Sequence Listing" section. A copy of the "Sequence Listing" is
available in electronic form from the USPTO web site
(http://seqdata.uspto.gov/?pageRequest=docDetail&DocID=US20110293626A1).
An electronic copy of the "Sequence Listing" will also be available
from the USPTO upon request and payment of the fee set forth in 37
CFR 1.19(b)(3).
* * * * *
References