rs632148
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs632148(C;G) |
| Make rs632148(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 31580962 |
| Gene | SRD5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs632148 |
| dbSNP (classic) | rs632148 |
| ClinGen | rs632148 |
| ebi | rs632148 |
| HLI | rs632148 |
| Exac | rs632148 |
| Gnomad | rs632148 |
| Varsome | rs632148 |
| LitVar | rs632148 |
| Map | rs632148 |
| PheGenI | rs632148 |
| Biobank | rs632148 |
| 1000 genomes | rs632148 |
| hgdp | rs632148 |
| ensembl | rs632148 |
| geneview | rs632148 |
| scholar | rs632148 |
| rs632148 | |
| pharmgkb | rs632148 |
| gwascentral | rs632148 |
| openSNP | rs632148 |
| 23andMe | rs632148 |
| SNPshot | rs632148 |
| SNPdbe | rs632148 |
| MSV3d | rs632148 |
| GWAS Ctlg | rs632148 |
| GMAF | 0.3563 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19926884] Analysis of Polymorphisms in the SRD5A2 Gene and Semen Parameters in Estonian Men
[PMID 22735779] Variants in the SRD5A2 gene are associated with quality of semen
| ClinVar | |
|---|---|
| Risk | rs632148(G;G) |
| Alt | rs632148(G;G) |
| Reference | Rs632148(C;C) |
| Significance | Non-pathogenic |
| Disease | not provided 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Variation | info |
| Gene | SRD5A2 |
| CLNDBN | not provided 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.31806031C>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000083635.1, RCV000359892.1, |
[PMID 18086758
] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.
[PMID 18431743] Consortium analysis of 7 candidate SNPs for ovarian cancer.
