rs2072590

A SNP in the HAGLR gene on chromosome 2. Its most notable genotype is A;A: 1.4x increased risk for ovarian cancer

Gene
HAGLR
Location
Chr 2176,177,905 (GRCh38)
Highest magnitude
1.4Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
24%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CNot ratedNo summary available.Typical · 0.067% of people
  2. A;CBad1.2x increased risk for ovarian cancerMinor · 1.228% of people
  3. A;AMost notableNot rated1.4x increased risk for ovarian cancerMinor · 1.45% of people

SNPedia records rs2072590 on the minus strand: (G;G), (G;T), (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.

  • AverageC;C 67% A;C 28% A;A 5%
  • European ancestry (Utah)C;C 40% A;C 47% A;A 13%
  • Han Chinese (Beijing)C;C 48% A;C 45% A;A 7%
  • Japanese (Tokyo)C;C 62% A;C 34% A;A 4%
  • Yoruba (Nigeria)C;C 93% A;C 8% A;A 0%
  • African ancestry (Southwest US)C;C 84% A;C 14% A;A 2%
  • Chinese (Denver)C;C 56% A;C 36% A;A 8%
  • Gujarati IndianC;C 71% A;C 28% A;A 1%
  • Luhya (Kenya)C;C 83% A;C 16% A;A <1%
  • Mexican ancestry (Los Angeles)C;C 66% A;C 26% A;A 9%
  • Maasai (Kenya)C;C 88% A;C 12% A;A 0%
  • TuscanC;C 44% A;C 46% A;A 11%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs2072590 is a SNP on chromosome 2q31, in a noncoding region ~5 kb distal to the HOXD3 gene and ~10 kb proximal to HOXD1. A genome-wide association study ultimately including over 10,000 ovarian cancer patients found statistically strong (p = 3.8 &#215; 10e?14) evidence for slightly elevated risk associated with the rs2072590(T) allele, with an odds ratio of 1.20 (CI: 1.14&#8211;1.25) as calculated for the serous subtype (of ovarian cancer), though it was significant for the other subtypes as well.

Source and license

Adapted from rs2072590 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.