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rs5210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5210(A;A)
Make rs5210(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17386704
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs5210
dbSNP (classic)rs5210
ClinGenrs5210
ebirs5210
HLIrs5210
Exacrs5210
Gnomadrs5210
Varsomers5210
LitVarrs5210
Maprs5210
PheGenIrs5210
Biobankrs5210
1000 genomesrs5210
hgdprs5210
ensemblrs5210
geneviewrs5210
scholarrs5210
googlers5210
pharmgkbrs5210
gwascentralrs5210
openSNPrs5210
23andMers5210
SNPshotrs5210
SNPdbers5210
MSV3drs5210
GWAS Ctlgrs5210
GMAF0.466
Max Magnitude0

[PMID 19799532] Influence of genetic polymorphisms on the pharmacokinetics and pharmaco-dynamics of sulfonylurea drugs


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


[PMID 17192490] Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.


[PMID 18599530OA-icon.png] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.


[PMID 18678618OA-icon.png] Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.


[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 23544998OA-icon.png] Association of TRPC1 gene polymorphisms with type 2 diabetes and diabetic nephropathy in Han Chinese population.


[PMID 28352326OA-icon.png] Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study.


ClinVar
Risk rs5210(A;A) rs5210(C;C)
Alt rs5210(A;A) rs5210(C;C)
Reference Rs5210(G;G)
Significance Probable-non-pathogenic
Disease Transient Neonatal Diabetes Maturity-onset diabetes of the young Hyperinsulinism
Variation info
Gene KCNJ11
CLNDBN Transient Neonatal Diabetes, Dominant Maturity-onset diabetes of the young Hyperinsulinism, Dominant/Recessive
Reversed 0
HGVS NC_000011.9:g.17408251G>A
CLNSRC
CLNACC RCV000293997.1, RCV000348877.1, RCV000395953.1,