Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. 27271189

2016
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
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
T 0.720 CausalMutation CLINVAR The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 18399931

2008
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR These results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations. 17389332

2007
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 16731834

2006
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: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR We studied the GCK V62M mutation identified in two families and co-segregating with hyperglycemia to understand how this mutation resulted in reduced function. 15677479

2005
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young. 9736233

1998
dbSNP: rs369841551
rs369841551
MC4R
A 0.700 CausalMutation CLINVAR Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. 27654141

2017
dbSNP: rs1375557127
rs1375557127
HNF4A
A 0.700 CausalMutation CLINVAR Characteristics of maturity onset diabetes of the young in a large diabetes center. 26059258

2016
dbSNP: rs1564865302
rs1564865302
KCNJ11
A 0.700 GeneticVariation CLINVAR Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. 27033559

2016
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: 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: rs1564911425
rs1564911425
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 ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 25182307

2014
dbSNP: rs1375557127
rs1375557127
HNF4A
A 0.700 CausalMutation CLINVAR Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 24947580

2014
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: rs776793516
rs776793516
HNF1A
G 0.700 CausalMutation CLINVAR Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. 25414397

2014
dbSNP: rs1057524908
rs1057524908
HNF1A
GC 0.700 CausalMutation 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: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286

2013
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

2013
dbSNP: rs1375557127
rs1375557127
HNF4A
A 0.700 CausalMutation CLINVAR Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 23485969

2013
dbSNP: rs1375557127
rs1375557127
HNF4A
A 0.700 CausalMutation 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