Rs3184504
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3184504 |
| PheGenI | rs3184504 |
| nextbio | rs3184504 |
| hapmap | rs3184504 |
| 1000 genomes | rs3184504 |
| hgdp | rs3184504 |
| ensembl | rs3184504 |
| gopubmed | rs3184504 |
| geneview | rs3184504 |
| scholar | rs3184504 |
| rs3184504 | |
| pharmgkb | rs3184504 |
| gwascentral | rs3184504 |
| openSNP | rs3184504 |
| 23andMe | rs3184504 |
| 23andMe all | rs3184504 |
| SNP Nexus | |
| SNPshot | rs3184504 |
| SNPdbe | rs3184504 |
| MSV3d | rs3184504 |
| Gene | SH2B3 |
| Chromosome | 12 |
| Orientation | plus |
| GMAF | 0.2179 |
| Position | 111884608 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 3 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | increased risk for celiac disease | |
| (T;T) | 3 | increased risk for celiac disease |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
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 18311140]
[PMID 17554260] associated with type-1 diabetes
23andMe blog coronary artery disease and heart attack
SNP Risk Version Effect
- rs646776 T 1.19
- rs17465637 C 1.14
- rs1746048 C 1.17
- rs6725887 C 1.17
- rs11206510 T 1.15
- rs3184504 T 1.13
- rs2306374 C 1.15
- rs3782886 C 1.44
| GWAS snp | |
|---|---|
| PMID | [PMID 19198610] |
| Trait | Plasma eosinophil count |
| Title | Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction |
| Risk Allele | T |
| P-val | 7E-19 |
| Odds Ratio | 7.60 [5.9-9.3] % standard unit increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 19430479] |
| 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 19430480] |
| 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 | |
| P-val | 3E-27 |
| Odds Ratio | NR NR |
[PMID 19693089] Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
| GWAS snp | |
|---|---|
| PMID | [PMID 20453842] |
| Trait | Rheumatoid arthritis |
| Title | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock |
| Risk Allele | T |
| P-val | 0.000006 |
| Odds Ratio | 1.08 [NR] |
[PMID 20560212] Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection
| GWAS snp | |
|---|---|
| PMID | [PMID 21378990] |
| Trait | |
| 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 21909115] |
| Trait | |
| 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 21829393] |
| Trait | |
| 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] |
[PMID 22493691] Novel associations for hypothyroidism include known autoimmune risk Loci.
[PMID 22087237] Improving the estimation of celiac disease sibling risk by non-HLA genes
[PMID 18252225] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
[PMID 18556337] 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 18713140] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.
[PMID 18978792] Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
[PMID 18987646] The expanding genetic overlap between multiple sclerosis and type I diabetes.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19168599] Type 1 diabetes in the BB rat: a polygenic disease.
[PMID 19307593] Signals of recent positive selection in a worldwide sample of human populations.
[PMID 19860791] Genetic evidence for a role of IL33 in nasal polyposis.
[PMID 19862010] Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
[PMID 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
[PMID 19956433] Genetics of coronary artery disease: focus on genome-wide association studies.
[PMID 20045101] Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
[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 21193429] Determinants of platelet count in humans.
[PMID 21253569] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?
[PMID 22525200] Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.
| GET Evidence | |
|---|---|
| SH2B3-W262R | |
| aa_change | Trp262Arg |
| aa_change_short | W262R |
| impact | pharmacogenetic |
| qualified_impact | Insufficiently evaluated pharmacogenetic |
| overall_frequency | 0.633761 |
| summary | |
| GWAS snp | |
|---|---|
| PMID | [PMID 23222517] |
| Trait | Red blood cell traits |
| Title | Seventy-five genetic loci influencing the human red blood cell. |
| Risk Allele | T |
| P-val | 4E-19 |
| Odds Ratio | .05 [0.039-0.063] unit increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 22139419] |
| 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 |
