Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369841551
rs369841551
MC4R
A 0.700 CausalMutation CLINVAR Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. 27654141

2017
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: 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: 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 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

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: rs267607555
rs267607555
LMNA
T 0.700 GeneticVariation CLINVAR Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. 24080738

2013
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 GeneticVariation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504

2013
dbSNP: rs1057524896
rs1057524896
BSCL2 ; HNRNPUL2-BSCL2
G 0.700 CausalMutation CLINVAR A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 23430896

2012
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: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598

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 Both our functional and genetic studies support R43H as the cause of GCK-MODY and G68D as a neutral rare variant. 22611063

2012
dbSNP: rs1057524903
rs1057524903
GCK ; LOC105375258
C 0.700 CausalMutation CLINVAR Insight into the biochemical characteristics of a novel glucokinase gene mutation. 21104275

2011
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: 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: rs267607555
rs267607555
LMNA
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in laminopathies: how does fate translate? 20074070

2010
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 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1057524902
rs1057524902
GCK
T 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519

2009
dbSNP: rs1057524902
rs1057524902
GCK
T 0.700 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: 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: 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: rs1057524905
rs1057524905
GCK ; LOC105375258
T 0.700 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: rs1057524905
rs1057524905
GCK ; LOC105375258
T 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519

2009