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rs148311934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148311934(C;T)
Make rs148311934(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149763
GeneGCK
is asnp
is mentioned by
dbSNPrs148311934
ebirs148311934
HLIrs148311934
Exacrs148311934
Varsomers148311934
Maprs148311934
PheGenIrs148311934
hapmaprs148311934
1000 genomesrs148311934
hgdprs148311934
ensemblrs148311934
gopubmedrs148311934
geneviewrs148311934
scholarrs148311934
googlers148311934
pharmgkbrs148311934
gwascentralrs148311934
openSNPrs148311934
23andMers148311934
23andMe allrs148311934
SNP Nexus

SNPshotrs148311934
SNPdbers148311934
MSV3drs148311934
GWAS Ctlgrs148311934
Max Magnitude0
ClinVar
Risk rs148311934(T;T)
Alt rs148311934(T;T)
Reference rs148311934(C;C)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2
Reversed 0
HGVS NC_000007.13:g.44189362C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029906.1,


[PMID 197902] [Neurogenic components of Wilms' tumor].


[PMID 9049484] Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.


[PMID 10525657] Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.


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