rs11263763

This variant is located in the HNF1B gene.

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GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cancer

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele A
OR 1.22
p 4.0e-47
N 475,312
Large GWAS
European

endometrial cancer

Ramachandran D et al. “GWAS meta-analysis identifies five susceptibility loci for endometrial cancer.” Ebiomedicine 118:105830 (2025)
Allele A
OR 1.14
p 2.0e-23
N 306,458
Meta-analysisLarge GWAS
multi-ancestry

endometrial carcinoma

Cheng TH et al. “Five endometrial cancer risk loci identified through genome-wide association analysis.” Nature Genetics 48(6):667-674 (2016)
Allele A
OR 1.20
p 3.0e-19
N 11,756
Large GWAS
European

endometrial endometrioid carcinoma

Cheng TH et al. “Five endometrial cancer risk loci identified through genome-wide association analysis.” Nature Genetics 48(6):667-674 (2016)
Allele A
OR 1.20
p 7.0e-17
N 11,626
Large GWAS
European

glucose measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

prostate carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele A
OR 1.24
p 5.0e-47
N 421,142
Large GWAS
European
Conti DV et al. “Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.” Nature Genetics 53(1):65-75 (2021)
Allele A
OR 1.23
p 5.0e-33
N 177,526
Meta-analysisLarge GWAS
European
Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)
Allele A
OR 1.09
p 9.0e-9
N 80,999
Large GWAS
African American or Afro-Caribbean
Hoffmann TJ et al. “A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.” Cancer Discovery 5(8):878-91 (2015)
Allele A
OR 1.22
p 5.0e-24
N 46,378
Large GWAS
multi-ancestry

About HNF1B

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

View all HNF1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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