rs7970695

This variant is located in the HNF1A gene.

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GWAS Catalog Trait Associations (56)

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

level of glutathione hydrolase 1 proenzyme in blood

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 0.12
p 1.0e-107
N 47,745
Large GWAS
European

alpha-fetoprotein level

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 0.09
p 3.0e-72
N 47,745
Large GWAS
European

high density lipoprotein cholesterol measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.05
p 9.0e-63
N 361,194
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 4.0e-11
N 115,082
Large GWAS
European

cholesteryl ester 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 0.03
p 2.0e-55
N 450,015
Large GWAS
multi-ancestry

cholesterol in very small VLDL 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 0.03
p 3.0e-53
N 450,015
Large GWAS
multi-ancestry

phospholipids in very small VLDL 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 0.03
p 2.0e-46
N 450,015
Large GWAS
multi-ancestry
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 0.04
p 1.0e-20
N 88,329
Large GWAS
European

total lipids in very small VLDL 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 0.03
p 5.0e-46
N 450,015
Large GWAS
multi-ancestry
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 0.04
p 2.0e-20
N 88,329
Large GWAS
European

free cholesterol in very small VLDL 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 0.03
p 9.0e-45
N 450,015
Large GWAS
multi-ancestry
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 0.04
p 3.0e-19
N 88,329
Large GWAS
European

complement factor H-related protein 5 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 0.07
p 4.0e-43
N 47,745
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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