Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs572115942
rs572115942
PHKG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs953686324
rs953686324
CLCNKB
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1392795567
rs1392795567
HNF4A
A 0.700 CausalMutation CLINVAR Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 193395

1977
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 GeneticVariation CLINVAR Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders. 2270059

1990
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. 2007407

1991
dbSNP: rs137853238
rs137853238
HNF1A
A 0.700 CausalMutation CLINVAR Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 9313763

1997
dbSNP: rs137853238
rs137853238
HNF1A
A 0.700 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 9032114

1997
dbSNP: rs776793516
rs776793516
HNF1A
G 0.700 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. 9075818

1997
dbSNP: rs776793516
rs776793516
HNF1A
G 0.700 CausalMutation CLINVAR A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. 9439666

1997
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: rs137853238
rs137853238
HNF1A
A 0.700 CausalMutation CLINVAR Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. 10585442

1999
dbSNP: rs369841551
rs369841551
MC4R
A 0.700 CausalMutation CLINVAR Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 10199800

1999
dbSNP: rs1057524908
rs1057524908
HNF1A
GC 0.700 CausalMutation CLINVAR Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 11058894

2000
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: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. 10753050

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. 10868844

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060

2000
dbSNP: rs11575937
rs11575937
LMNA
A 0.700 CausalMutation CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585

2000
dbSNP: rs1375557127
rs1375557127
HNF4A
A 0.700 CausalMutation CLINVAR Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 10768098

2000
dbSNP: rs1568724014
rs1568724014
HNF4A ; MIR3646
T 0.700 CausalMutation CLINVAR The Protein Data Bank. 10592235

2000
dbSNP: rs369841551
rs369841551
MC4R
A 0.700 CausalMutation CLINVAR The Protein Data Bank. 10592235

2000
dbSNP: rs1057524908
rs1057524908
HNF1A
GC 0.700 CausalMutation CLINVAR Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. 11463573

2001
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