Rs3184504

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Orientationplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 increased risk for celiac disease
(T;T) 3 increased risk for celiac disease
ReferenceGRCh38 38.1/141
Chromosome12
Position111446804
GeneSH2B3
is asnp
is mentioned by
dbSNPrs3184504
PheGenIrs3184504
nextbiors3184504
hapmaprs3184504
1000 genomesrs3184504
hgdprs3184504
ensemblrs3184504
gopubmedrs3184504
geneviewrs3184504
scholarrs3184504
googlers3184504
pharmgkbrs3184504
gwascentralrs3184504
openSNPrs3184504
23andMers3184504
23andMe allrs3184504
SNP Nexus

SNPshotrs3184504
SNPdbers3184504
MSV3drs3184504
GMAF0.2181
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs3184504 is a nonsynonymous SNP in the SH2B3 gene, and it is also known as R262W.

In a recent (2008) study of non-HLA SNP associations of 1600+ celiac disease patients, this SNP was considered one of the most significant. The odds ratio for the minor allele was 1.19 (CI:1.10-1.30, p=1.33x10e-7). rs653178, another SNP in strong linkage disequilibrium (r2>0.99) with rs3184504, was also associated with celiac disease.[PMID 18311140OA-icon.png]

[PMID 17554260OA-icon.png] associated with type-1 diabetes

23andMe blog coronary artery disease and heart attack

SNP Risk Version Effect

23andMe blog blood pressure

GWAS snp
PMID [PMID 24262325]
Trait Coronary artery disease
Title Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Risk Allele T
P-val 9E-7
Odds Ratio 1.07 [1.04-1.11]
GWAS snp
PMID [PMID 24026423]
Trait Platelet counts
Title A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Risk Allele T
P-val 5E-11
Odds Ratio 5.33 [NR] unit decrease
GWAS snp
PMID [PMID 23417110OA-icon.png]
Trait Beta-2 microglubulin plasma levels
Title Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
Risk Allele C
P-val 3E-8
Odds Ratio 0.02 [0.012-0.028] unit decrease
GWAS snp
PMID [PMID 23222517OA-icon.png]
Trait Red blood cell traits
Title Seventy-five genetic loci influencing the human red blood cell.
Risk Allele T
P-val 4E-19 (EA, Hgb)
Odds Ratio 0.051 [0.039-0.063] unit increase
GWAS snp
PMID [PMID 2249369OA-icon.png]
Trait Hypothyroidism
Title Novel associations for hypothyroidism include known autoimmune risk loci.
Risk Allele T
P-val 3E-12
Odds Ratio 1.2 [1.14-1.27]
GWAS snp
PMID [PMID 22139419OA-icon.png]
Trait Platelet counts
Title New gene functions in megakaryopoiesis and platelet formation.
Risk Allele T
P-val 1E-26
Odds Ratio 3.99 [3.26-4.72] 10^9/l increase
GWAS snp
PMID [PMID 21909115OA-icon.png]
Trait Diastolic blood pressure
Title Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Risk Allele T
P-val 4E-25
Odds Ratio 0.4480 [NR] mmHg increase
GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait Diabetes autoantibodies
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele T
P-val 2E-38
Odds Ratio 1.3000 [NR]
GWAS snp
PMID [PMID 21378990OA-icon.png]
Trait Coronary heart disease
Title Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Risk Allele T
P-val 0.000006
Odds Ratio 1.0700 [1.04-1.10]
GWAS snp
PMID [PMID 21829393]
Trait Type 1 diabetes autoantibodies
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele T
P-val 2E-38 (T1D)
Odds Ratio 1.3 [NR]
GWAS snp
PMID [PMID 21378990]
Trait Coronary heart disease
Title Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Risk Allele T
P-val 6E-6
Odds Ratio 1.07 [1.04-1.10]
GWAS snp
PMID [PMID 20453842]
Trait Rheumatoid arthritis
Title Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
Risk Allele T
P-val 6E-6
Odds Ratio 1.08 [NR]
GWAS snp
PMID [PMID 19430480OA-icon.png]
Trait Type 1 diabetes
Title Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Risk Allele T
P-val 3E-27
Odds Ratio NR
GWAS snp
PMID [PMID 19430479OA-icon.png]
Trait Diastolic blood pressure
Title Genome-wide association study of blood pressure and hypertension.
Risk Allele T
P-val 3E-14
Odds Ratio 0.48 [0.36-0.60] mm Hg increase
GWAS snp
PMID [PMID 19430479OA-icon.png]
Trait Systolic blood pressure
Title Genome-wide association study of blood pressure and hypertension.
Risk Allele T
P-val 5E-9
Odds Ratio 0.48 [0.38-0.78] mm Hg increase

}}

GWAS snp
PMID [PMID 19198610]
Trait Eosinophil counts
Title Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
Risk Allele T
P-val 7E-19 (European)
Odds Ratio 7.6 [5.9-9.3] % standard unit increase

[PMID 25009551] The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

[PMID 23844121OA-icon.png] Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus

[PMID 23328882] Meta-analyses of four eosinophil related gene variants in coronary heart disease. [PMID 22525200] Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.

[PMID 22493691OA-icon.png] Novel associations for hypothyroidism include known autoimmune risk Loci.

[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

[PMID 22087237OA-icon.png] Improving the estimation of celiac disease sibling risk by non-HLA genes [PMID 21253569OA-icon.png] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?

[PMID 21193429OA-icon.png] Determinants of platelet count in humans.

[PMID 20560212OA-icon.png] Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection [PMID 20546165] The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. }}

[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis [PMID 20045101OA-icon.png] Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. [PMID 19956433OA-icon.png] Genetics of coronary artery disease: focus on genome-wide association studies.

[PMID 19951419OA-icon.png] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis

[PMID 19693089] Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort [PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 19862010OA-icon.png] Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

[PMID 19860791] Genetic evidence for a role of IL33 in nasal polyposis.

[PMID 19307593OA-icon.png] Signals of recent positive selection in a worldwide sample of human populations.

[PMID 19168599OA-icon.png] Type 1 diabetes in the BB rat: a polygenic disease.

[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.

[PMID 18987646OA-icon.png] The expanding genetic overlap between multiple sclerosis and type I diabetes.

[PMID 18978792OA-icon.png] Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

[PMID 18713140OA-icon.png] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

[PMID 18556337OA-icon.png] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

[PMID 18252225OA-icon.png] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.


OMIM212750
Desc
Variant
Relatedalso
OMIM612520
DescDIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
Variant
Relatedalso
OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
OMIM612011
DescCELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
Variant
Relatedalso


GET Evidence
SH2B3-W262R
aa_change Trp262Arg
aa_change_short W262R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.633761
summary