rs523349
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | ||
| (C;G) | increased ovarian cancer risk | |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 31580636 |
| Gene | SRD5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs523349 |
| dbSNP (classic) | rs523349 |
| ClinGen | rs523349 |
| ebi | rs523349 |
| HLI | rs523349 |
| Exac | rs523349 |
| Gnomad | rs523349 |
| Varsome | rs523349 |
| LitVar | rs523349 |
| Map | rs523349 |
| PheGenI | rs523349 |
| Biobank | rs523349 |
| 1000 genomes | rs523349 |
| hgdp | rs523349 |
| ensembl | rs523349 |
| geneview | rs523349 |
| scholar | rs523349 |
| rs523349 | |
| pharmgkb | rs523349 |
| gwascentral | rs523349 |
| openSNP | rs523349 |
| 23andMe | rs523349 |
| SNPshot | rs523349 |
| SNPdbe | rs523349 |
| MSV3d | rs523349 |
| GWAS Ctlg | rs523349 |
| GMAF | 0.3425 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs523349 is a SNP in the steroid-5-alpha-reductase SRD5A2 gene; it is also known as V89L.
In a study of a total of 1,466 Caucasian cases of ovarian cancer, the rs523349(G) allele showed a significant trend of increasing risk of ovarian cancer per rare allele (p = 0.00002).[PMID 18086758
]
[PMID 18431743] showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer
[PMID 19926884] Analysis of Polymorphisms in the SRD5A2 Gene and Semen Parameters in Estonian Men
[PMID 19914946] Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE review
[PMID 20855474] Association of Steroid 5{alpha} Reductase Type II Variants and Serum Androstane-3{alpha},17{beta}-Diol Glucuronide Concentration in Chinese Elderly Men
[PMID 21715084] SRD5A Polymorphisms and Biochemical Failure After Radical Prostatectomy
[PMID 22735779] Variants in the SRD5A2 gene are associated with quality of semen
| ClinVar | |
|---|---|
| Risk | Rs523349(C;C) |
| Alt | Rs523349(C;C) |
| Reference | Rs523349(G;G) |
| Significance | Non-pathogenic |
| Disease | not provided not specified |
| Variation | info |
| Gene | SRD5A2 |
| CLNDBN | not provided not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.31805706G>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000083650.1, RCV000250955.1, |
[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.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 20215396] Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation?
[PMID 21530059] Association of genetic variants in the two isoforms of 5alpha-reductase, SRD5A1 and SRD5A2, in lean patients with polycystic ovary syndrome.
[PMID 23091730] Androgen Metabolism Gene Polymorphisms, Associations with Prostate Cancer Risk and Pathological Characteristics: A Comparative Analysis between South African and Senegalese Men
[PMID 23505265] Sex dependent influence of a functional polymorphism in steroid 5-α-reductase type 2 (SRD5A2) on post-traumatic stress symptoms
[PMID 23499746] SRD5A1 and SRD5A2 are associated with treatment for benign prostatic hyperplasia with the combination of 5α-reductase inhibitors and α-adrenergic receptor antagonists
[PMID 22901566] Effectiveness of the combined evaluation of KLK3 genetics and free-to-total prostate specific antigen ratio for prostate cancer diagnosis.
[PMID 23088992] Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias.
[PMID 23867117] Associations between polymorphisms in sex steroid related genes and autistic-like traits
[PMID 26169017] SRD5A gene polymorphism in Japanese men predicts prognosis of metastatic prostate cancer with androgen-deprivation therapy
[PMID 26751392] Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors.
[PMID 30782264] Association between SRD5A2 polymorphism and hypospadias: a meta-analysis.
