rs7979473

This variant is located in the HNF1A gene.

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GWAS Catalog Trait Associations (29)

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

C-reactive protein measurement

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 0.13
p —
N 436,491
Large GWAS
multi-ancestry
Kocarnik JM et al. “Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Human Molecular Genetics 27(16):2940-2953 (2018)
Allele G
OR 0.12
p 2.0e-32
N 30,503
Large GWAS
multi-ancestry
Reiner AP et al. “Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.” American Journal of Human Genetics 91(3):502-12 (2012)
Allele G
OR 0.12
p 1.0e-10
N 11,828
Large GWAS
multi-ancestry

galectin-3 measurement

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 2.0e-48
N 47,745
Large GWAS
European
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele G
OR —
β 0.079
p 3.0e-22
N 21,758
Large GWAS
European

tyrosine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele A
OR 0.06
p 5.0e-43
N 117,944
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.06
p 2.0e-36
N 88,207
Large GWAS
European

N-glycan measurement

Sharapov S et al. “A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins.” Nature Communications 16(1):5525 (2025)
Allele A
OR 0.03
p 2.0e-32
N 7,540
Large GWAS
multi-ancestry

E-selectin 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 0.02
p 8.0e-30
N 47,745
Large GWAS
European

chitinase-3-like protein 1 measurement

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 0.05
p 1.0e-23
N 47,745
Large GWAS
European

cholelithiasis

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 0.08
p 6.0e-20
N 665,111
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 0.02
p 9.0e-19
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 A
OR 0.02
p 6.0e-18
N 243,951
Large GWAS
European, South Asian
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.02
p 1.0e-17
N 382,988
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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