HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation BEFREE We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY. 29895593 2018
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
T 0.850 GeneticVariation GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation BEFREE The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM). 24933231 2015
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. 22325160 2012
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation BEFREE Significant associations between the heterozygote A98V genotype and clinical parameters of insulin metabolism were reported but no relationship with type 2 diabetes was obtained. 18777455 2008
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation BEFREE We studied the effect of four common polymorphisms (rs1920792, I27L, A98V and S487N) in and upstream of the HNF-1alpha gene on transcriptional activity in vitro, and their possible association with type 2 diabetes and insulin secretion in vivo. 17033837 2006
dbSNP: rs1800574
rs1800574
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.850 GeneticVariation BEFREE Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes. 15277395 2004
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation BEFREE Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002). 22152955 2011
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0010068
Disease:
Coronary heart disease
0.820 GeneticVariation BEFREE In the LURIC Study cohort the A-allele of rs2259816 is associated with decreased CRP but not with coronary artery disease. 21062467 2010
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0010068
Disease:
Coronary heart disease
T 0.820 GeneticVariation GWASCAT New susceptibility locus for coronary artery disease on chromosome 3q22.3. 19198612 2009
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0010068
Disease:
Coronary heart disease
T 0.820 GeneticVariation GWASDB New susceptibility locus for coronary artery disease on chromosome 3q22.3. 19198612 2009
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs1169310
rs1169310
Entrez Id: 6927;64897
Gene Symbol: HNF1A;C12orf43
HNF1A;C12orf43
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1183910
rs1183910
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2259816
rs2259816
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2393791
rs2393791
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs7310409
rs7310409
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs7979473
rs7979473
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1169288
rs1169288
Entrez Id: 6927;283460
Gene Symbol: HNF1A;HNF1A-AS1
HNF1A;HNF1A-AS1
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7310409
rs7310409
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
CUI: C0201657
Disease:
C-reactive protein measurement
G 0.800 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018