rs1169292

This variant is located in the HNF1A gene.

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GWAS Catalog Trait Associations (9)

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

apolipoprotein B measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)

Allele C

OR 0.02

p 5.0e-22

N 439,214

Large GWAS

European

phospholipid level, intermediate density lipoprotein measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.03

p 1.0e-15

N 115,082

Large GWAS

European

lipid measurement, intermediate density lipoprotein measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.03

p 4.0e-14

N 115,082

Large GWAS

European

serum alanine aminotransferase amount

Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)

Allele T

OR 0.05

p 4.0e-12

N 164,197

Large GWAS

European

remnant cholesterol measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.03

p 8.0e-12

N 115,082

Large GWAS

European

free cholesterol measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.03

p 3.0e-11

N 115,082

Large GWAS

European

level of ceramide

Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)

Allele T

OR 0.14

p 7.0e-9

N 4,492

Large GWAS

European

cholesteryl ester measurement, blood VLDL cholesterol amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.02

p 2.0e-8

N 115,082

Large GWAS

European

serum gamma-glutamyl transferase measurement

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele T

OR 0.14

p 3.0e-8

N 2,629

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

2 submitters4 publications

not provided; Maturity-onset diabetes of the young

View on ClinVar →

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]

rs1169292

GWAS Catalog Trait Associations (9)

apolipoprotein B measurement

phospholipid level, intermediate density lipoprotein measurement

lipid measurement, intermediate density lipoprotein measurement

serum alanine aminotransferase amount

remnant cholesterol measurement

free cholesterol measurement

level of ceramide

cholesteryl ester measurement, blood VLDL cholesterol amount

serum gamma-glutamyl transferase measurement

ClinVar annotation

About HNF1A

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