From SNPedia
rs12708716 has been reported in a large study to be associated with
type-1 diabetes.
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.19 (CI 0.97-1.45), and for homozygotes, 1.55 (CI 1.27-1.89). [PMID 17554300]
In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 0.81 (CI 0.77-0.86). [PMID 17554260]
[PMID 18987646] Tested in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10 296 unrelated controls, SNP rs12708716 was associated with disease risk (p = 1.6 x 10e-16)
| ? | (A;A) (A;G) (G;G) |
|---|
 |
| GWAS
|
| SNP
| rs12708716
|
| PubMedID
| [PMID 17554260]
|
| Condition
| Type 1 diabetes
|
| Gene
| KIAA0350
|
| Risk Allele
| A
|
| pValue
| 3.00E-018
|
| OR
| 1.23
|
| 95% CI
| 1.16-1.30
|
| GWAS snp
|
| PMID
| [PMID 18978792]
|
| Trait
| Type 1 diabetes
|
| Title
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|
| Risk Allele
| G
|
| P-val
| 7E-13
|
| Odds Ratio
| NR NR
|
| 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
| 2E-16
|
| Odds Ratio
| NR NR
|
Related to DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
according to
omim 222100. See
also
Related to C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
according to
omim 611303. See
also
[PMID 19734133] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis
| PharmGKB | PA162356641 |
| 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: rs12708716-A). This variant is associated with type 1 diabetes. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Diabetes Mellitus, Diabetes Mellitus, Type 1 |
| Curation Level | Non-Curated |
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
