Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. 28247534

2017
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Large islets, beta-cell proliferation, and a glucokinase mutation. 20375417

2010
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 19884385

2009
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations. 17082186

2006
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 15277402

2004
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. 12941786

2003
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 11916951

2002
dbSNP: rs104894012
rs104894012
GCK
0.800 GeneticVariation UNIPROT Familial hyperinsulinism caused by an activating glucokinase mutation. 9435328

1998
dbSNP: rs104894012
rs104894012
GCK
T 0.800 CausalMutation CLINVAR