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rs193922279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922279(A;A)
Make rs193922279(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44153378
GeneGCK
is asnp
is mentioned by
dbSNPrs193922279
ebirs193922279
HLIrs193922279
Exacrs193922279
Varsomers193922279
Maprs193922279
PheGenIrs193922279
hapmaprs193922279
1000 genomesrs193922279
hgdprs193922279
ensemblrs193922279
gopubmedrs193922279
geneviewrs193922279
scholarrs193922279
googlers193922279
pharmgkbrs193922279
gwascentralrs193922279
openSNPrs193922279
23andMers193922279
23andMe allrs193922279
SNP Nexus

SNPshotrs193922279
SNPdbers193922279
MSV3drs193922279
GWAS Ctlgrs193922279
Max Magnitude0
ClinVar
Risk rs193922279(A;A)
Alt rs193922279(A;A)
Reference rs193922279(G;G)
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.44192977C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029859.1,


[PMID 12627330] Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.


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


[PMID 16602010] Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.


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