From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
2.7
|
18.5x risk of Type-1 Diabetes
|
| (A;G)
|
2.1
|
5.5x risk type-1 diabetes
|
| (G;G)
|
0
|
normal
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
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 5.49 (CI 4.83-6.24), and for homozygotes, 18.52 (CI 12.69-27.03). [PMID 17554300]
Note that the (A) allele is the most common in various human populations; instead of labeling (A) as a risk allele, we could consider the (G) allele protective.
| 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
|
6E-129
|
| Odds Ratio
|
NR NR
|
| PharmGKB | PA164740758 |
| Name | |
| Annotation | GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 6p21.32; Reported Gene(s): HLA; Risk Allele: rs9272346-G); (p-value= 6E-129).This variant is associated with Type 1 diabetes. |
| Gene | HLA-DQA1 |
| Featue | |
| Evidence | PubMed ID:18978792; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Diabetes Mellitus, Diabetes Mellitus, Type 1 |
| Curation Level | Non-Curated |
| PharmGKB | PA162355906 |
| Name | |
| Annotation | A genome-wide association study in 2,000 individuals for each of 7 major diseases and a shared set of 3,000 controls found an association of this SNP with type 1 diabetes. |
| Gene | HLA-DQA1 |
| Featue | |
| Evidence | PubMed ID:17554300 |
| Drugs | |
| Diseases | Diabetes Mellitus, Type 1 |
| Curation Level | Curated |
