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From SNPedia

Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5215(C;T)
Make rs5215(T;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (old)rs5215
1000 genomesrs5215
23andMe allrs5215
GWAS Ctlgrs5215
Max Magnitude0
? (C;C) (C;T) (T;T) 28

The association between type-1 diabetes and rs5215 is mentioned as being replicated in [PMID 17554300OA-icon.png]; there is also a 90% correlation between rs5215 and rs5219.

GWAS snp
PMID [PMID 18372903OA-icon.png]
Trait Type 2 diabetes
Title Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Risk Allele C
P-val 3.9999999999999998E-7
Odds Ratio 1.16 [1.09-1.23]
GWAS snp
PMID [PMID 17463249OA-icon.png]
Trait Type 2 diabetes
Title Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
Risk Allele C
P-val 5.0000000000000002E-11
Odds Ratio 1.14 [1.10-1.19]

[PMID 20043145OA-icon.png] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study

[PMID 20802253OA-icon.png] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion

[PMID 22569928OA-icon.png] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus

[PMID 16733889] [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].

[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.

[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.

[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.

[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.

[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.

[PMID 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.

[PMID 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.

[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.

[PMID 20018041OA-icon.png] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.

[PMID 20018066OA-icon.png] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.

[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.

[PMID 20550665OA-icon.png] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.

[PMID 21573802] Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.

[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes

[PMID 25247988OA-icon.png] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study

GWAS snp
PMID [PMID 24509480OA-icon.png]
Trait Type 2 diabetes
Title Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Risk Allele C
P-val 3E-11
Odds Ratio 1.08 [1.04-1.12]

Risk rs5215(T;T)
Alt rs5215(T;T)
Reference Rs5215(C;C)
Significance Probable-non-pathogenic
Disease not specified Transient Neonatal Diabetes Hyperinsulinism Maturity-onset diabetes of the young
Variation info
Gene KCNJ11
CLNDBN not specified Transient Neonatal Diabetes, Dominant Hyperinsulinism, Dominant/Recessive Maturity-onset diabetes of the young
Reversed 0
HGVS NC_000011.9:g.17408630C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146099.2, RCV000262909.1, RCV000315713.1, RCV000357357.1,

[PMID 25755232] Habitual coffee intake, genetic polymorphisms, and type 2 diabetes