rs523349

A SNP in the SRD5A2 gene on chromosome 2. Its most notable genotype is C;C.

Gene
SRD5A2
Location
Chr 231,580,636 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
34%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedNo summary available.Typical · 0.048% of people
  2. C;GBadincreased ovarian cancer riskTypical · 0.040% of people
  3. G;GGoodcommon in clinvarTypical · 0.011% of people

On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageC;C 48% C;G 40% G;G 11%
  • European ancestry (Utah)C;C 65% C;G 32% G;G 3%
  • Han Chinese (Beijing)C;C 31% C;G 42% G;G 27%
  • Japanese (Tokyo)C;C 40% C;G 49% G;G 12%
  • Yoruba (Nigeria)C;C 59% C;G 38% G;G 3%

Conditions, medicines and genes

Other SRD5A2 SNPs

All SRD5A2 SNPs

Notes

From SNPedia

Show notes, about 130 words

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). 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 Auto |PMID=19914946 |Title=Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE review }} {{PMID Auto |PMID=20855474 |Title=Association of Steroid 5{alpha} Reductase Type II Variants and Serum Androstane-3{alpha},17{beta}-Diol Glucuronide Concentration in Chinese Elderly Men }}

Source and license

Adapted from rs523349 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.