rs1271572

A SNP in the ESR2 gene on chromosome 14. Its most notable genotype is C;C: normal

Gene
ESR2
Location
Chr 1464,295,199 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
46%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratednormalTypical · 0.041% of people
  2. A;CNot rated1.65x increased risk only in men for myocardial infarctionTypical · 0.046% of people
  3. A;ANot rated1.65x increased risk only in men for myocardial infarction; 1.8x increased risk in females for ovarian cancerTypical · 0.013% of people

SNPedia records rs1271572 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 3 HapMap populations.

  • AverageC;C 41% A;C 46% A;A 13%
  • European ancestry (Utah)C;C 35% A;C 46% A;A 19%
  • Han Chinese (Beijing)C;C 48% A;C 46% A;A 7%
  • Japanese (Tokyo)C;C 39% A;C 46% A;A 15%

Conditions, medicines and genes

Other ESR2 SNPs

All ESR2 SNPs

Notes

From SNPedia

Show notes, about 160 words

The rs1271572(T) allele was significantly more common in patients who developed MI (P < 0.001), based on a study of 710 Spanish patients. This was statistically significant only in men [odds ratio 1.65, CI: 1.18-2.30; p = 0.003). Based on a study of 313 female patients, rs1271572(T;T) homozygotes were at increased risk for epithelial ovarian cancer. The odds ratio was 1.79, CI:1.15-2.79, p global = 0.01. [Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer]. Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study. Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse. Vascular actions of estrogens: functional implications. Do Estrogen Receptor beta Polymorphisms Play A Role in the Pharmacogenetics of Estrogen Signaling? Genetic polymorphisms of estrogen receptors alpha and beta and the risk of developing prostate cancer.

Source and license

Adapted from rs1271572 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.