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rs5215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5215(C;T)
Make rs5215(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387083
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs5215
ebirs5215
HLIrs5215
Exacrs5215
Varsomers5215
Maprs5215
PheGenIrs5215
hapmaprs5215
1000 genomesrs5215
hgdprs5215
ensemblrs5215
gopubmedrs5215
geneviewrs5215
scholarrs5215
googlers5215
pharmgkbrs5215
gwascentralrs5215
openSNPrs5215
23andMers5215
23andMe allrs5215
SNP Nexus

SNPshotrs5215
SNPdbers5215
MSV3drs5215
GWAS Ctlgrs5215
GMAF0.2801
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.

Neighborrs28936678
Distance569


Venter snp
Source plos
Gene KCNJ11
allele T
frequency 0.592
sift TOLERATED
HuRef 1103649619608
Disease Association Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as type II diabetes mellitus.



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.


GET Evidence
KCNJ11-V250I
aa_change Val250Ile
aa_change_short V250I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[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]


ClinVar
Risk rs5215(T;T)
Alt rs5215(T;T)
Reference rs5215(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene KCNJ11
CLNDBN not specified
Reversed 0
HGVS NC_000011.9:g.17408630C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146099.1,



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