Rs2295490

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is asnp
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dbSNPrs2295490
hapmaprs2295490
hgdprs2295490
ensemblrs2295490
gopubmedrs2295490
scholarrs2295490
googlers2295490
pharmgkbrs2295490
hgvbaseg2prs2295490
medrefsnprs2295490
23andMers2295490
SNP Nexus

GeneTRIB3
Chromosome20
Orientationplus
Position316904
GenotypeEffect
rs2295490(A;A)normal
rs2295490(A;G)1.32x increased risk of early-onset type-2 diabetes
rs2295490(G;G)1.32x increased risk of early-onset type-2 diabetes


Genotypes Magnitude Summary
Rs2295490(A;A) normal
Rs2295490(A;G) 1.32x increased risk of early-onset type-2 diabetes
Rs2295490(G;G) 1.32x increased risk of early-onset type-2 diabetes
rs2295490 is a SNP in the tribbles homolog 3 TRIB3 gene, also known as Q84R. The (A) allele encodes the Gln (Q), while the (G) allele encodes the Arg (R).

A study involving four different case-control samples comprising a total of 5469 Caucasisans determined that rs2295490(G) was nominally associated with type-2 diabetes (odds ratio 1.17, CI: 1.00-1.36, p = 0.04). When stratified by age of diabetes onset, these carriers had an increased risk of early-onset T2D (OR 1.32, CI: 1.10-1.58, p = 0.002).[PMID 18984671]

[PMID 19139803] this gain of function mutation may affect insulin signaling and increase the risk of insulin resistance

? (A;A) (A;G) (G;G)
PharmGKBPA162363984
NameTRIB3: Q84R
AnnotationThis variant in the TRIB3 gene is associated with early-onset T2D in Whites. This Q84R "gain of function" polymorphism, impairs insulin signaling.
GeneTRIB3
Featue
EvidencePubMed ID:18984671
Drugs
DiseasesDiabetes Mellitus, Type 2
Curation LevelCurated