Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793998
rs1064793998
GCK
0.720 GeneticVariation BEFREE The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1064793998
rs1064793998
GCK
0.720 GeneticVariation BEFREE We conclude that V62M may cause hyperglycemia by a complex defect of GCK regulation involving instability in combination with loss of control by a putative endogenous activator and/or GKRP. 15677479

2005
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. 22035297

2012
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 16602010

2006
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 20337973

2010
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Six novel mutations in the GCK gene in MODY patients. 17204055

2007
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). 14517956

2003
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152

2009
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. 14517946

2003
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
A 0.700 GeneticVariation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
A 0.700 GeneticVariation CLINVAR Six novel mutations in the GCK gene in MODY patients. 17204055

2007
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
A 0.700 GeneticVariation CLINVAR Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 19564454

2009
dbSNP: rs1057524906
rs1057524906
GCK
G 0.700 GeneticVariation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
C 0.700 GeneticVariation CLINVAR Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 18162506

2008
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
C 0.700 GeneticVariation CLINVAR Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 20226046

2010
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
C 0.700 GeneticVariation CLINVAR Insulin gene mutations as a cause of permanent neonatal diabetes. 17855560

2007
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
C 0.700 GeneticVariation CLINVAR Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 18192540

2008
dbSNP: rs1057524907
rs1057524907
INS ; INS-IGF2
C 0.700 GeneticVariation CLINVAR INS-gene mutations: from genetics and beta cell biology to clinical disease. 25542748

2015
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. 11508276

2001
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 25182307

2014
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR "MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?" 11079754

2000
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
C 0.700 GeneticVariation CLINVAR Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 23348805

2013
dbSNP: rs1562715574
rs1562715574
GCK ; LOC105375258
C 0.700 GeneticVariation CLINVAR Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. 24735133

2015
dbSNP: rs1562715574
rs1562715574
GCK ; LOC105375258
C 0.700 GeneticVariation CLINVAR Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. 18382660

2008