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: 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: rs11658063
rs11658063
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs11658063
rs11658063
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0242379
Disease:
Malignant neoplasm 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: rs4795218
rs4795218
Entrez Id: 6928;105371754
Gene Symbol: HNF1B;LOC105371754
HNF1B;LOC105371754
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium yields new genome-wide significant loci: rs13303010 at 1p36.33 (NOC2L, P = 8.36 × 10<sup>-14</sup>), rs2941471 at 8q21.11 (HNF4G, P = 6.60 × 10<sup>-10</sup>), rs4795218 at 17q12 (HNF1B, P = 1.32 × 10<sup>-8</sup>), and rs1517037 at 18q21.32 (GRP, P = 3.28 × 10<sup>-8</sup>). rs78417682 is not statistically significantly associated with pancreatic cancer in PANDoRA. 29422604 2018
dbSNP: rs758130759
rs758130759
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. 29764441 2018
dbSNP: rs758130759
rs758130759
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. 29764441 2018
dbSNP: rs758130759
rs758130759
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011881
Disease:
Diabetic Nephropathy
0.010 GeneticVariation BEFREE Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy. 29764441 2018
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.010 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: C0014175
Disease:
Endometriosis
0.010 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: rs11263763
rs11263763
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. 25378557 2015
dbSNP: rs11263763
rs11263763
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0014170
Disease:
Endometrial Neoplasms
0.010 GeneticVariation BEFREE SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. 25378557 2015
dbSNP: rs11263763
rs11263763
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. 25378557 2015
dbSNP: rs2229295
rs2229295
Entrez Id: 6928;105371755
Gene Symbol: HNF1B;LOC105371755
HNF1B;LOC105371755
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE One 3'UTR SNP (rs2229295) in the HNF1B gene was significantly associated with T2DM, and the frequency of an A allele (rs2229295) in T2DM patients was decreased compared with that in controls. 26329304 2015
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The polymorphism rs4430796 of the chromosome 17q12 appears to be a biomarker for cancer aggressiveness, increased PSA and tumor volume of PCa. 24627192 2014
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0677886
Disease:
Epithelial ovarian cancer
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: 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: rs7405776
rs7405776
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0677886
Disease:
Epithelial ovarian cancer
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: rs7501939
rs7501939
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Rs4430796 and rs7501939 were associated with endometrial cancer risk in MEC and WHI with no heterogeneity observed across racial/ethnic groups (P ≥ 0.21) or between studies (P ≥ 0.70). 22299039 2012
dbSNP: rs757210
rs757210
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Ten T2D markers near 9 loci (NOTCH2, ADCY5, JAZF1, CDKN2A/B, TCF7L2, KCNQ1, MTNR1B, FTO, and HNF1B) were nominally associated with PCa (P < 0.05); the association for single nucleotide polymorphism rs757210 at the HNF1B locus was significant when multiple comparisons were accounted for (adjusted P = 0.001). 23193118 2012
dbSNP: rs757210
rs757210
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Ten T2D markers near 9 loci (NOTCH2, ADCY5, JAZF1, CDKN2A/B, TCF7L2, KCNQ1, MTNR1B, FTO, and HNF1B) were nominally associated with PCa (P < 0.05); the association for single nucleotide polymorphism rs757210 at the HNF1B locus was significant when multiple comparisons were accounted for (adjusted P = 0.001). 23193118 2012
dbSNP: rs11868513
rs11868513
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In an analysis involving only patients with prostate cancer, 1 SNP (rs11868513) in the HNF1B gene was more frequent in patients with tumors with a greater stage than in those with a lower tumor stage. 21982019 2011
dbSNP: rs4794758
rs4794758
Entrez Id: 6928;105371754
Gene Symbol: HNF1B;LOC105371754
HNF1B;LOC105371754
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE As expected, rs11649743 was related to prostate cancer risk (P = 3.54 × 10(-8)); however, the association within this second locus was stronger for rs4794758 (P = 4.95 × 10(-10)), which explained all of the risk observed with rs11649743 when both SNPs were included in the same model (P = 0.32 for rs11649743; P = 0.002 for rs4794758). 21576123 2011
dbSNP: rs4794758
rs4794758
Entrez Id: 6928;105371754
Gene Symbol: HNF1B;LOC105371754
HNF1B;LOC105371754
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE As expected, rs11649743 was related to prostate cancer risk (P = 3.54 × 10(-8)); however, the association within this second locus was stronger for rs4794758 (P = 4.95 × 10(-10)), which explained all of the risk observed with rs11649743 when both SNPs were included in the same model (P = 0.32 for rs11649743; P = 0.002 for rs4794758). 21576123 2011
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Three HNF1B SNPS, rs11649743, rs4430796, and rs7501939, were associated with decreased risk of prostate cancer and were also associated, with marginal statistical significance, with increased risk of diabetes. 19998368 2010