HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs1060499693
rs1060499693
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1280663753
rs1280663753
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs137853334
rs137853334
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs137853335
rs137853335
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555813319
rs1555813319
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4274078
Disease:
Hyperinsulinism due to HNF4A deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555816654
rs1555816654
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1568731279
rs1568731279
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0813230
Disease:
Serum triglycerides increased
A 0.700 CausalMutation CLINVAR
dbSNP: rs1568731279
rs1568731279
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C3888018
Disease:
Congenital Hyperinsulinism
A 0.700 CausalMutation CLINVAR
dbSNP: rs1568731279
rs1568731279
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs193922469
rs193922469
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs193922470
rs193922470
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922471
rs193922471
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922474
rs193922474
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922475
rs193922475
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922476
rs193922476
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
TCAA 0.700 GeneticVariation CLINVAR
dbSNP: rs193922477
rs193922477
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922479
rs193922479
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922479
rs193922479
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0020459
Disease:
Hyperinsulinism
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
T 0.700 CausalMutation CLINVAR
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C0020459
Disease:
Hyperinsulinism
T 0.700 CausalMutation CLINVAR
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4274078
Disease:
Hyperinsulinism due to HNF4A deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs776489992
rs776489992
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C4274078
Disease:
Hyperinsulinism due to HNF4A deficiency
AGCT 0.700 GeneticVariation CLINVAR
dbSNP: rs952497863
rs952497863
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011847
Disease:
Diabetes
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014