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rs523349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C)
(C;G) increased ovarian cancer risk
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position31580636
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs523349
ebirs523349
HLIrs523349
Exacrs523349
Varsomers523349
Maprs523349
PheGenIrs523349
hapmaprs523349
1000 genomesrs523349
hgdprs523349
ensemblrs523349
gopubmedrs523349
geneviewrs523349
scholarrs523349
googlers523349
pharmgkbrs523349
gwascentralrs523349
openSNPrs523349
23andMers523349
23andMe allrs523349
SNP Nexus

SNPshotrs523349
SNPdbers523349
MSV3drs523349
GWAS Ctlgrs523349
GMAF0.3425
Max Magnitude0
? (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 18086758OA-icon.png]

Neighborrs9282858
Distance120
[PMID 18431743OA-icon.png] 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 Untested
Disease not provided
Variation info
Gene SRD5A2
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.31805706G>C
CLNSRC ClinVar
CLNACC RCV000083650.1,



[PMID 18163429OA-icon.png] 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 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 19168589OA-icon.png] 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.


GET Evidence
SRD5A2-L88V
aa_change Leu88Val
aa_change_short L88V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.725287
summary



[PMID 23091730OA-icon.png] Androgen Metabolism Gene Polymorphisms, Associations with Prostate Cancer Risk and Pathological Characteristics: A Comparative Analysis between South African and Senegalese Men


[PMID 23505265OA-icon.png] 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 23088992OA-icon.png] 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.