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: rs914046953
rs914046953
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs894213416
rs894213416
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs886043813
rs886043813
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs886043813
rs886043813
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		T 0.800 CausalMutation CLINVAR HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 25536396 2015
dbSNP: rs886043813
rs886043813
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		T 0.800 CausalMutation CLINVAR A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 25700310 2015
dbSNP: rs886043813
rs886043813
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		T 0.800 CausalMutation CLINVAR Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 15068978 2004
dbSNP: rs886043813
rs886043813
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		T 0.800 CausalMutation CLINVAR Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 16249435 2005
dbSNP: rs886041820
rs886041820
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs8064454
rs8064454
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0476089
Disease:
Endometrial Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a common variant associated with risk of endometrial cancer. 21499250 2011
dbSNP: rs8064454
rs8064454
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0600139
Disease:
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT Two susceptibility loci identified for prostate cancer aggressiveness. 25939597 2015
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 16249435 2005
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. 10484768 1999
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 15068978 2004
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 15930087 2006
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. 15181075 2004
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. 11918730 2002
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. 15001636 2004
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both. 10672455 2000
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. 11845238 2002
dbSNP: rs761415487
rs761415487
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome 		0.700 GeneticVariation UNIPROT Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy. 14583183 2004
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: rs757211
rs757211
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0476089
Disease:
Endometrial Carcinoma 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a common variant associated with risk of endometrial cancer. 21499250 2011
dbSNP: rs757210
rs757210
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0677886
Disease:
Epithelial ovarian cancer 		A 0.710 GeneticVariation GWASCAT Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 25581431 2015