Rs3184504
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs3184504 |
| hapmap | rs3184504 |
| hgdp | rs3184504 |
| ensembl | rs3184504 |
| gopubmed | rs3184504 |
| scholar | rs3184504 |
| rs3184504 | |
| pharmgkb | rs3184504 |
| hgvbaseg2p | rs3184504 |
| medrefsnp | rs3184504 |
| 23andMe | rs3184504 |
| SNP Nexus |
| Gene | SH2B3 |
| Chromosome | 12 |
| Orientation | plus |
| Position | 110368990 |
| Genotype | Effect |
|---|---|
| rs3184504(C;C) | normal |
| rs3184504(C;T) | increased risk for celiac disease |
| rs3184504(T;T) | increased risk for celiac disease |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs3184504(C;C) | 00 | normal |
| Rs3184504(C;T) | increased risk for celiac disease | |
| Rs3184504(T;T) | increased risk for celiac disease |
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
spittoon 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
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
| 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 |
Related to DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
according to omim 612520. See also
Related to DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
according to omim 222100. See also
Related to CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
according to omim 612011. See also
[PMID 19693089] Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort
| PharmGKB | PA163522161 |
| Name | SH2B3: 784T>C, W262R |
| Annotation | The nonsynonymous SNP at 12q24, in SH2B3 gene, was significantly associated (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls). |
| Gene | SH2B3 |
| Featue | |
| Evidence | PubMed ID:19198610 |
| Drugs | |
| Diseases | Myocardial Infarction |
| Curation Level | Curated |
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
