rs11171739
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (C;C) | 2 | 1.75x risk of developing Type-1 diabetes |
| (C;T) | 1.5 | 1.34x risk of developing Type-1 diabetes |
| (T;T) | 1 | Normal risk of developing Type-1 diabetes |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 56076841 |
| Gene | ERBB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11171739 |
| dbSNP (classic) | rs11171739 |
| ClinGen | rs11171739 |
| ebi | rs11171739 |
| HLI | rs11171739 |
| Exac | rs11171739 |
| Gnomad | rs11171739 |
| Varsome | rs11171739 |
| LitVar | rs11171739 |
| Map | rs11171739 |
| PheGenI | rs11171739 |
| Biobank | rs11171739 |
| 1000 genomes | rs11171739 |
| hgdp | rs11171739 |
| ensembl | rs11171739 |
| geneview | rs11171739 |
| scholar | rs11171739 |
| rs11171739 | |
| pharmgkb | rs11171739 |
| gwascentral | rs11171739 |
| openSNP | rs11171739 |
| 23andMe | rs11171739 |
| SNPshot | rs11171739 |
| SNPdbe | rs11171739 |
| MSV3d | rs11171739 |
| GWAS Ctlg | rs11171739 |
| GMAF | 0.4573 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs11171739 has been reported in a large study to be associated with type-1 diabetes.
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]
| 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 |
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[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
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[PMID 19361613] Genetic control of human brain transcript expression in Alzheimer disease.
[PMID 20668683] Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.
[PMID 26320593] A single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population.
