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rs193921338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193921338(A;A)
Make rs193921338(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145590
GeneGCK
is asnp
is mentioned by
dbSNPrs193921338
ebirs193921338
HLIrs193921338
Exacrs193921338
Varsomers193921338
Maprs193921338
PheGenIrs193921338
hapmaprs193921338
1000 genomesrs193921338
hgdprs193921338
ensemblrs193921338
gopubmedrs193921338
geneviewrs193921338
scholarrs193921338
googlers193921338
pharmgkbrs193921338
gwascentralrs193921338
openSNPrs193921338
23andMers193921338
23andMe allrs193921338
SNP Nexus

SNPshotrs193921338
SNPdbers193921338
MSV3drs193921338
GWAS Ctlgrs193921338
Max Magnitude0
ClinVar
Risk rs193921338(A,T;A,T)
Alt rs193921338(A,T;A,T)
Reference rs193921338(C;C)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2
Reversed 1
HGVS NC_000007.13:g.44185189G>A; NC_000007.13:g.44185189G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029845.1, RCV000029844.1,


[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.


[PMID 14517956] Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).


[PMID 20337973] Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.