Rs11171739
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs11171739 |
| hapmap | rs11171739 |
| hgdp | rs11171739 |
| ensembl | rs11171739 |
| gopubmed | rs11171739 |
| scholar | rs11171739 |
| rs11171739 | |
| pharmgkb | rs11171739 |
| hgvbaseg2p | rs11171739 |
| medrefsnp | rs11171739 |
| 23andMe | rs11171739 |
| SNP Nexus |
| Gene | ERBB3 |
| Chromosome | 12 |
| Orientation | plus |
| Position | 54756891 |
| Genotype | Effect |
|---|---|
| rs11171739(C;C) | 1.7x risk |
| rs11171739(C;T) | 1.3x risk |
| rs11171739(T;T) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs11171739(A;A) | 00 | |
| Rs11171739(C;C) | 1.7x risk | |
| Rs11171739(C;T) | 1.3x risk | |
| Rs11171739(T;T) | 00 | normal |
The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.34 (CI 1.17-1.54), and for homozygotes, 1.75 (CI 1.48-2.06). [PMID 17554300]
In an expanded follow-up study of >6,000 controls and 6,000 patients, in which rs2292239 was ultimately chosen to replace the nearby rs11171739 originally determined to be associated with type-1 diabetes, the heterozygote odds ratio for SNP rs11171739 was recalculated to be 1.22 (CI 1.17–1.29). [PMID 17554260]
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
| GWAS | |
|---|---|
| SNP | rs11171739 |
| PubMedID | [PMID 17554300] |
| Condition | Type 1 diabetes |
| Gene | ERBB3 |
| Risk Allele | C |
| pValue | 1.00E-011 |
| OR | 1.34 |
| 95% CI | 1.17-1.54 |
| PharmGKB | PA162356638 |
| Name | |
| Annotation | GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: (see Todd 2007); Risk Allele: rs11171739-C). This variant is associated with type 1 diabetes. |
| Gene | RPS26, ERBB3 |
| Featue | |
| Evidence | PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Diabetes Mellitus, Diabetes Mellitus, Type 1 |
| Curation Level | Non-Curated |
