Rs9272346

From SNPedia

Jump to: navigation, search
is asnp
is mentioned by
dbSNPrs9272346
hapmaprs9272346
hgdprs9272346
ensemblrs9272346
gopubmedrs9272346
scholarrs9272346
googlers9272346
pharmgkbrs9272346
hgvbaseg2prs9272346
medrefsnprs9272346
23andMers9272346
SNP Nexus

GeneHLA-DQA1
Chromosome6
Orientationplus
Position32712349
GenotypeEffect
rs9272346(A;A)18.5x risk type-1 diabetes
rs9272346(A;G)5.5x risk type-1 diabetes
rs9272346(G;G)normal


Genotypes Magnitude Summary
Rs9272346(A;A) 2.72.7 18.5x risk of Type-1 Diabetes
Rs9272346(A;G) 2.12.1 5.5x risk type-1 diabetes
Rs9272346(G;G) 00 normal
rs9272346 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.

? (A;A) (A;G) (G;G)
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
PharmGKBPA162355906
Name
AnnotationA 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.
GeneHLA-DQA1
Featue
EvidencePubMed ID:17554300
Drugs
DiseasesDiabetes Mellitus, Type 1
Curation LevelCurated