rs9332964
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | micropenis |
| (A;G) | 2.5 | carrier for mutations linked to micropenis |
| (G;G) | 0 | not linked to micropenis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 31529325 |
| Gene | SRD5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9332964 |
| dbSNP (classic) | rs9332964 |
| ClinGen | rs9332964 |
| ebi | rs9332964 |
| HLI | rs9332964 |
| Exac | rs9332964 |
| Gnomad | rs9332964 |
| Varsome | rs9332964 |
| LitVar | rs9332964 |
| Map | rs9332964 |
| PheGenI | rs9332964 |
| Biobank | rs9332964 |
| 1000 genomes | rs9332964 |
| hgdp | rs9332964 |
| ensembl | rs9332964 |
| geneview | rs9332964 |
| scholar | rs9332964 |
| rs9332964 | |
| pharmgkb | rs9332964 |
| gwascentral | rs9332964 |
| openSNP | rs9332964 |
| 23andMe | rs9332964 |
| SNPshot | rs9332964 |
| SNPdbe | rs9332964 |
| MSV3d | rs9332964 |
| GWAS Ctlg | rs9332964 |
| GMAF | 0.0009183 |
| Max Magnitude | 4 |
rs9332964 is a nonsynonymous change known as R227Q in the SRD5A2 gene. The SRD5A2 gene encodes steroid 5-alpha-reductase, an enzyme which catalyzes the conversion of testosterone in the body. Polymorphisms in SRD5A2 have been implicated in several disorders of male sexual development such as micropenis. The homozygous rs9332964(A;A) genotype has been observed in several Japenese males with micropenis. [PMID 12843198]
| ClinVar | |
|---|---|
| Risk | Rs9332964(A;A) |
| Alt | Rs9332964(A;A) |
| Reference | Rs9332964(G;G) |
| Significance | Pathogenic |
| Disease | Micropenis not provided 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Variation | info |
| Gene | SRD5A2 |
| CLNDBN | Micropenis not provided 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Reversed | 1 |
| HGVS | NC_000002.11:g.31754395C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003515.3, RCV000083663.1, RCV000288398.1, RCV000416333.1, RCV000416356.1, |
[PMID 18163429
] 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.
