Gene: GCK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1036483919
rs1036483919
GCK
0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542

2016
dbSNP: rs4607517
rs4607517
GCK
0.020 GeneticVariation BEFREE A genetic variant near the glucokinase gene (rs4607517) was significantly associated with progression to prediabetes or diabetes (hazard ratio 1·27, 1·16-1·38; p=1·70 × 10(-7)). 26577716

2016
dbSNP: rs1036483919
rs1036483919
GCK
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053

2014
dbSNP: rs4607517
rs4607517
GCK
0.020 GeneticVariation BEFREE For four candidate SNPs (rs780094, rs10830963, rs7903146, and rs4607517), the strength of association between genotype and glucose was significantly (P-interaction<0.05) different in those with and without prevalent diabetes, and for all five fasting glucose candidate SNPs (rs780094, rs10830963, rs560887, rs4607517, and rs13266634) the association with measured fasting glucose was more significant in the smaller sample without prevalent diabetes than in the larger combined sample of those with and without diabetes. 20839289

2010
dbSNP: rs749877032
rs749877032
GCK
0.010 GeneticVariation BEFREE We present a family with HNF1A-MODY due to a likely pathogenic mutation in HNF1A (c.59G>A, p.Gly20Glu), diagnosed a long time after the first diagnosis of diabetes. 27323672

2016
dbSNP: rs556436603
rs556436603
GCK ; LOC105375258
0.010 GeneticVariation BEFREE GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation. 24001579

2014
dbSNP: rs1174670182
rs1174670182
GCK
0.010 GeneticVariation BEFREE We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. 23155716

2012
dbSNP: rs867232360
rs867232360
GCK
0.010 GeneticVariation BEFREE At follow-up of the TNDM patients with genetic alterations, 43% developed diabetes or impaired glucose tolerance in later life (one with 6q24 duplication and two with N48D and E227K mutations at KCNJ11 gene). 17490422

2007
dbSNP: rs193929373
rs193929373
GCK ; LOC105375258
0.010 GeneticVariation BEFREE These data support the association between carriage of GCK gene mutations, G264S and IVS8+2, and the development of diabetes, impaired fasting glucose and reduced birthweight. 16026363

2005
dbSNP: rs104894014
rs104894014
GCK
0.010 GeneticVariation BEFREE The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 11916951

2002
dbSNP: rs1444739794
rs1444739794
GCK
0.010 GeneticVariation BEFREE The V62A mutation, which has not been previously reported, cosegregated with diabetes in the N2 family. 9736233

1998