rs1872930

This variant is located in the AKR1D1 gene.

▶

GWAS Catalog Trait Associations (4)

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

testosterone measurement

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 T
OR 0.05
p 2.0e-54
N 230,454
Large GWAS
European
Haas CB et al. “Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.” Endocrinology 163(4) (2022)
Allele T
OR 0.04
p 5.0e-26
N 182,648
Large GWAS
European

X-12844 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.28
p 6.0e-33
N 6,136
Large GWAS
European

X-17340 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.21
p 5.0e-18
N 6,136
Large GWAS
European

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.17
p 5.0e-15
N 4,526
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
3 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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…