rs3184504
A SNP in the SH2B3 gene on chromosome 12. Its most notable genotype is T;T: slightly (1.4x) increased risk for celiac disease
- Gene
- SH2B3
- Location
- Chr 12111,446,804 (GRCh38)
- Highest magnitude
- 1.5Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 22%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodnormal
- C;TBadSlightly increased risk for celiac disease
- T;TMost notableBadslightly (1.4x) increased risk for celiac disease
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 9 HapMap populations.
- AverageC;C 74% C;T 20% T;T 6%
- European ancestry (Utah)C;C 33% C;T 46% T;T 21%
- Han Chinese (Beijing)C;C 99% C;T <1% T;T 0%
- Japanese (Tokyo)C;C 100% C;T 0% T;T 0%
- Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
- African ancestry (Southwest US)C;C 80% C;T 18% T;T 2%
- Gujarati IndianC;C 78% C;T 20% T;T 2%
- Mexican ancestry (Los Angeles)C;C 59% C;T 38% T;T 4%
- Maasai (Kenya)C;C 98% C;T 2% T;T 0%
- TuscanC;C 19% C;T 58% T;T 24%
Related
Conditions, medicines and genes
Genosets
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Show notes, about 430 words
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 (r 2 >0.99) with rs3184504, was also associated with celiac disease. 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 23andMe blog blood pressure Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations? Determinants of platelet count in humans. The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. Genetics of coronary artery disease: focus on genome-wide association studies. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Genetic evidence for a role of IL33 in nasal polyposis. Signals of recent positive selection in a worldwide sample of human populations. Type 1 diabetes in the BB rat: a polygenic disease. Shared and distinct genetic variants in type 1 diabetes and celiac disease. The expanding genetic overlap between multiple sclerosis and type I diabetes. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease. 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). On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
T;T
slightly increased resistance to bacterial infections
Source and license
Adapted from rs3184504 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.