rs2227311

A SNP in the RB1 gene on chromosome 13. Its most notable genotype is A;A.

Gene
RB1
Location
Chr 1348,412,896 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodNo summary available.Typical · 0.083% of people

SNPedia records rs2227311 on the minus strand: (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 83%
  • European ancestry (Utah)A;A 76%
  • Han Chinese (Beijing)A;A 83%
  • Japanese (Tokyo)A;A 83%
  • Yoruba (Nigeria)A;A 92%
  • African ancestry (Southwest US)A;A 90%
  • Chinese (Denver)A;A 87%
  • Gujarati IndianA;A 77%
  • Luhya (Kenya)A;A 91%
  • Mexican ancestry (Los Angeles)A;A 74%
  • Maasai (Kenya)A;A 96%
  • TuscanA;A 70%

Conditions, medicines and genes

Other RB1 SNPs

All RB1 SNPs

Notes

From SNPedia

Notes

This SNP has been linked to another SNP, rs4151620 which has been linked to ovarian cancer . More specifically: rs2227311(C) alleles were found to be perfectly correlated to rs4151620(G) alleles, and carriers of two rs4151620(G) alleles have a 5X reduced risk of developing ovarian cancer compared to carriers of two rs4151620(C) alleles, in a survey of ~5,000 women from the US, UK, and Denmark.

Source and license

Adapted from rs2227311 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.