rs9332964

This is a coding sequence variant variant in the SRD5A2 gene.

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ClinVar annotation

Pathogenic★★★☆
20 submitters13 publications

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (PPSH); Autism spectrum disorder; Micropenis; SRD5A2-related disorder

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Research that mentions this SNP (1)

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Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF‐1, and IGFBP‐3 and prostate cancer risk in African‐American men: The Flint Men's Health Study
AssociationN=473Aruna V. Sarma et al.(2008)· The Prostate

A population-based case-control study of 473 African-American men (131 prostate cancer cases, 342 controls) examined SNP associations in six genes involved in androgen and IGF-1 pathways. Significant associations were found between prostate cancer and CYP17 SNPs rs6163, rs6162, and rs743572, with heterozygotes showing decreased risk (P=0.0014, 0.0018, 0.0028). Suggestive evidence for association was found between IGF-1 SNP rs5742657 and prostate cancer (P=0.058 genotype; P=0.02 allelic test). No significant associations were observed for SNPs in CYP3A4, CYP19A1, SRD5A2, or IGFBP-3 genes.

Traits studied:Prostate cancer
PubMedDOIMetascience Observatory

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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