rs7780066

This variant is located in the AKR1D1 gene.

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GWAS Catalog Trait Associations (2)

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

X-12844 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.24
p 1.0e-35
N 8,231
Large GWAS
European

testosterone measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 8.0e-19
N 322,594
Major Consortium StudyLarge GWAS
multi-ancestry
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 0.01
p 3.0e-8
N 382,988
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Congenital bile acid synthesis defect 2; not provided

View on ClinVar →

About AKR1D1

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]

View all AKR1D1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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