HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs11651052
rs11651052
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia 		G 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs17138478
rs17138478
Entrez Id: 6928;105371754
Gene Symbol: HNF1B;LOC105371754
HNF1B;LOC105371754
CUI: C0242216
Disease:
Biliary calculi 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. 30504769 2018
dbSNP: rs3110641
rs3110641
Entrez Id: 6928;105371755
Gene Symbol: HNF1B;LOC105371755
HNF1B;LOC105371755
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3110641
rs3110641
Entrez Id: 6928;105371755
Gene Symbol: HNF1B;LOC105371755
HNF1B;LOC105371755
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs11651052
rs11651052
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs11658063
rs11658063
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0684249
Disease:
Carcinoma of lung 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs11658063
rs11658063
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE The minor allele at rs336958 on 5q14.3 was associated with increased lung cancer risk (OR = 1.47; 95% CI, 1.22-1.78), whereas the minor allele at rs11658063 on 17q12 was associated with reduced risk (OR = 0.80; 95% CI, 0.72-0.90). 30894353 2019
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer. 28214017 2017
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation BEFREE Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 × 10(-8)) epithelial ovarian cancer. 23535649 2013
dbSNP: rs7405776
rs7405776
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation BEFREE Different single-nucleotide polymorphisms associate with invasive serous (rs7405776 odds ratio (OR)=1.13, P=3.1 × 10(-10)) and clear cell (rs11651755 OR=0.77, P=1.6 × 10(-8)) epithelial ovarian cancer. 23535649 2013
dbSNP: rs757210
rs757210
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation BEFREE We validated the two loci at 3q25 and 17q21 that were previously found to have associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 × 10(-9)) and 10p12 (rs1243180, P = 1.8 × 10(-8)) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 × 10(-10)). 23535730 2013
dbSNP: rs587776771
rs587776771
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1266042
Disease:
Chromophobe Renal Cell Carcinoma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1518693
Disease:
Clear cell adenocarcinoma of ovary 		T 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442 2017
dbSNP: rs7405776
rs7405776
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1518693
Disease:
Clear cell adenocarcinoma of ovary 		A 0.700 GeneticVariation GWASCAT Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 28346442 2017
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0009402
Disease:
Colorectal Carcinoma 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs12601991
rs12601991
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs1057519371
rs1057519371
Entrez Id: 6928;105371754
Gene Symbol: HNF1B;LOC105371754
HNF1B;LOC105371754
CUI: C1834931
Disease:
Cystic renal dysplasia 		TG 0.700 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017