Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1392795567
rs1392795567
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
dbSNP: rs1565886545
rs1565886545
HNF1A
C 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: rs1568724014
rs1568724014
HNF4A ; MIR3646
T 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: rs1568724014
rs1568724014
HNF4A ; MIR3646
T 0.700 CausalMutation CLINVAR Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 23485969

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

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: rs776793516
rs776793516
HNF1A
G 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: 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: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. 22060211

2012
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. 23295292

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

2012
dbSNP: rs1564865302
rs1564865302
KCNJ11
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. 22701567

2012
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
G 0.700 GeneticVariation CLINVAR GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. 22820548

2012
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063

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

2011
dbSNP: rs1564865302
rs1564865302
KCNJ11
A 0.700 GeneticVariation CLINVAR Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene. 21210267

2011
dbSNP: rs1564865302
rs1564865302
KCNJ11
A 0.700 GeneticVariation CLINVAR Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. 21054355

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: rs1564911425
rs1564911425
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 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