Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100

2014
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063

2012
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702

2012
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 19358091

2009
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900

2007
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123. 11942313

2002