rs2208532

This variant is located in the SRD5A2 gene.

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GWAS Catalog Trait Associations (1)

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

11beta-hydroxyandrosterone glucuronide 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 0.13

p 1.0e-18

N 8,081

Large GWAS

European

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele A

OR 0.12

p 8.0e-17

N 8,809

Large GWAS

European

About SRD5A2

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

View all SRD5A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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