rs8064454

This is a upstream gene variant variant in the HNF1B gene.

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GWAS Catalog Trait Associations (2)

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

type 2 diabetes mellitus

Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele A
OR 1.13
p 6.0e-61
N 433,540
Large GWAS
East Asian
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele A
OR 0.12
p 5.0e-35
N 216,287
Meta-analysisLarge GWAS
East Asian, South Asian

prostate carcinoma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.33
p 7.0e-48
N 90,332
Large GWAS
East Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 1.37
p 2.0e-45
N 109,347
Large GWAS
East Asian
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele C
OR 1.38
p 1.0e-38
N 84,412
Large GWAS
East Asian
Berndt SI et al. “Two susceptibility loci identified for prostate cancer aggressiveness.” Nature Communications 6:6889 (2015)
Allele C
OR 1.24
p 8.0e-29
N 7,541
Large GWAS
European

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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