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: rs952497863
rs952497863
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011849
Disease:
Diabetes Mellitus
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014
dbSNP: rs370239205
rs370239205
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1. 10819248 2000
dbSNP: rs370239205
rs370239205
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
0.010 GeneticVariation BEFREE R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1. 10819248 2000
dbSNP: rs736820
rs736820
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs750703108
rs750703108
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0008533
Disease:
Hemophilia B
0.010 GeneticVariation BEFREE A comparison of the -21 mutation with the previously described -20 T-->A mutation (associated with the hemophilia B Leyden phenotype) and -26 G-->C mutation (associated with severe hemophilia B throughout life) was made. 8324220 1993
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C2825856
Disease:
Factor VII measurement
C 0.700 GeneticVariation GWASCAT A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. 30642921 2019
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1445957
Disease:
Serum total cholesterol measurement
C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1800961
rs1800961
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0337428
Disease:
Fibrinogen assay
T 0.700 GeneticVariation GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
dbSNP: rs137853337
rs137853337
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation UNIPROT A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. 9449683 1998
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
0.800 GeneticVariation UNIPROT A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. 9243109 1997
dbSNP: rs137853338
rs137853338
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease:
Maturity-Onset Diabetes of the Young, Type 1
0.800 GeneticVariation UNIPROT A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. 9243109 1997
dbSNP: rs3212198
rs3212198
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Also, SNPs rs4810424 and rs3212198 in HNF-4alpha nominally predicted future type 2 diabetes (HR 1.3 [95% CI 1.0-1.6], P = 0.03; and 1.1 [1.0-1.2], P = 0.04). 18332101 2008
dbSNP: rs2144908
rs2144908
Entrez Id: 3172;105372629
Gene Symbol: HNF4A;LOC105372629
HNF4A;LOC105372629
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Although no interactions between the four variants on the risk of type 2 diabetes were detected, the multiplicative interaction between PPARG Pro12Ala and HNF4A rs2144908 was found to be associated with 2-hour postprandial insulin (P = 0.004 under an additive model for rs2144908; and P = 0.001 under a dominant model for rs2144908) after adjusting for age, sex and BMI, assuming a dominant model for PPARG Pro12Ala. 20079163 2009
dbSNP: rs1223493898
rs1223493898
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Although no interactions between the four variants on the risk of type 2 diabetes were detected, the multiplicative interaction between PPARG Pro12Ala and HNF4A rs2144908 was found to be associated with 2-hour postprandial insulin (P = 0.004 under an additive model for rs2144908; and P = 0.001 under a dominant model for rs2144908) after adjusting for age, sex and BMI, assuming a dominant model for PPARG Pro12Ala. 20079163 2009
dbSNP: rs4812829
rs4812829
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.830 GeneticVariation BEFREE Among these nine SNPs that previously showed an association with T2DM in Asian Indians, HMG20A (rs7178572) and HNF4A (rs4812829</span>) gene variants showed a significant association with GDM. 28190082 2017
dbSNP: rs4812829
rs4812829
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE Among these nine SNPs that previously showed an assoc</span>iation with T2DM in Asian Indians, HMG20A (rs7178572) and HNF4A (rs4812829) gene variants showed a significant association with GDM</span>. 28190082 2017
dbSNP: rs1223493898
rs1223493898
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Amongst non-obese individuals, we observed significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, P = 0.04], GCK -30G>A (OR = 1.23, P = 0.01), SLC30A8 R325W (OR = 0.87, P = 0.04), and TCF7L2 rs7903146 (OR = 1.89, P = 4.5 x 10-23), and non-significant associations with PPARG Pro12Ala (OR = 0.85, P = 0.14), ADIPOQ -11,377C>G (OR = 1.00, P = 0.97) and ENPP1 K121Q (OR = 0.99, P = 0.94). 18498634 2008
dbSNP: rs753285226
rs753285226
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Amongst non-obese individuals, we observed significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, P = 0.04], GCK -30G>A (OR = 1.23, P = 0.01), SLC30A8 R325W (OR = 0.87, P = 0.04), and TCF7L2 rs7903146 (OR = 1.89, P = 4.5 x 10-23), and non-significant associations with PPARG Pro12Ala (OR = 0.85, P = 0.14), ADIPOQ -11,377C>G (OR = 1.00, P = 0.97) and ENPP1 K121Q (OR = 0.99, P = 0.94). 18498634 2008
dbSNP: rs1031647179
rs1031647179
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Amongst non-obese individuals, we observed significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, P = 0.04], GCK -30G>A (OR = 1.23, P = 0.01), SLC30A8 R325W (OR = 0.87, P = 0.04), and TCF7L2 rs7903146 (OR = 1.89, P = 4.5 x 10-23), and non-significant associations with PPARG Pro12Ala (OR = 0.85, P = 0.14), ADIPOQ -11,377C>G (OR = 1.00, P = 0.97) and ENPP1 K121Q (OR = 0.99, P = 0.94). 18498634 2008
dbSNP: rs736824
rs736824
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Analyses revealed that, after correction for multiple testing, one SNP (rs736824; P<0.022) and two haplotypes (P1 promoter haplotype rs6130608-rs2425637; P<0.032 and intronic haplotype rs736824-rs745975-rs3212183; P<0.025) were associated with the risk of MetS. 25671620 2015
dbSNP: rs6130608
rs6130608
Entrez Id: 3172;101927219
Gene Symbol: HNF4A;HNF4A-AS1
HNF4A;HNF4A-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Analyses revealed that, after correction for multiple testing, one SNP (rs736824; P<0.022) and two haplotypes (P1 promoter haplotype rs6130608-rs2425637; P<0.032 and intronic haplotype rs736824-rs745975-rs3212183; P<0.025) were associated with the risk of MetS. 25671620 2015
dbSNP: rs2425637
rs2425637
Entrez Id: 3172;101927219
Gene Symbol: HNF4A;HNF4A-AS1
HNF4A;HNF4A-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Analyses revealed that, after correction for multiple testing, one SNP (rs736824; P<0.022) and two haplotypes (P1 promoter haplotype rs6130608-rs2425637; P<0.032 and intronic haplotype rs736824-rs745975-rs3212183; P<0.025) were associated with the risk of MetS. 25671620 2015
dbSNP: rs745975
rs745975
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Analyses revealed that, after correction for multiple testing, one SNP (rs736824; P<0.022) and two haplotypes (P1 promoter haplotype rs6130608-rs2425637; P<0.032 and intronic haplotype rs736824-rs745975-rs3212183; P<0.025) were associated with the risk of MetS. 25671620 2015
dbSNP: rs3212183
rs3212183
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Analyses revealed that, after correction for multiple testing, one SNP (rs736824; P<0.022) and two haplotypes (P1 promoter haplotype rs6130608-rs2425637; P<0.032 and intronic haplotype rs736824-rs745975-rs3212183; P<0.025) were associated with the risk of MetS. 25671620 2015