rs2393776

This variant is located in the HNF1A gene.

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GWAS Catalog Trait Associations (8)

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

C-reactive protein measurement

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.10
p 9.0e-31
N 38,000
Large GWAS
South Asian
Sherman BT et al. “Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.” Aids (london, England) 35(2):193-204 (2021)
Allele A
OR 0.13
p 1.0e-9
N 7,052
Large GWAS
multi-ancestry

complement factor H-related protein 5 measurement

Iglesias MJ et al. “Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.” Nature Communications 14(1):3280 (2023)
Allele G
OR 0.06
p 1.0e-21
N 50,412
Large GWAS
European

bilirubin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 1.0e-11
N 394,642
Large GWAS
European

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele G
OR 0.02
p 4.0e-17
N 235,096
Large GWAS
European

About HNF1A

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

View all HNF1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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