rs3110641

This variant is located in the HNF1B gene.

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GWAS Catalog Trait Associations (4)

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

blood urea nitrogen amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.03
p 1.0e-46
N 492,819
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.01
p 1.0e-24
N 416,178
Large GWAS
European, NR

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele G
OR —
p 3.0e-44
N 2,535,601
Large GWAS
multi-ancestry
Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele G
OR 0.07
p 3.0e-13
N 421,743
Large GWAS
multi-ancestry

serum urea amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 3.0e-42
N 394,642
Large GWAS
European

prostate carcinoma

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 1.06
p 4.0e-21
N 726,828
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 1.06
p 8.0e-14
N 234,253
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Renal cysts and diabetes syndrome; not provided

View on ClinVar →

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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