rs9340799

A SNP in the ESR1 gene on chromosome 6. Its most notable genotype is G;G: Women have 10x risk of Endometriosis, but half the risk of Endometrial Cancer and 0.76x less cognitive impairment.

Gene
ESR1
Location
Chr 6151,842,246 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
26%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodWomen have lower risk of Endometriosis but normal risk for Endometrial Cancer, and more cognitive impairment with age.Worth knowing · 2.062% of people
  2. A;GGoodWomen have normal (lower) risk of Endometriosis, 0.75x lower risk of Endometrial Cancer, and normal (higher) risk of cognitive impairment.Worth knowing · 2.031% of people
  3. G;GMost notableBadWomen have 10x risk of Endometriosis, but half the risk of Endometrial Cancer and 0.76x less cognitive impairment.Important · 3.07% of people

On SNPedia: (A;A), (A;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.

  • AverageA;A 62% A;G 31% G;G 7%
  • European ancestry (Utah)A;A 49% A;G 42% G;G 9%
  • Han Chinese (Beijing)A;A 65% A;G 25% G;G 10%
  • Japanese (Tokyo)A;A 71% A;G 24% G;G 4%
  • Yoruba (Nigeria)A;A 64% A;G 32% G;G 3%

Conditions, medicines and genes

Other ESR1 SNPs

All ESR1 SNPs

Notes

From SNPedia

Show notes, about 260 words

rs9340799 is a SNP in the estrogen alpha receptor ESR1 gene, and it is also known as the -351A>G variant. Among women, rs8179176, rs9340799, rs1256065, and rs1256030 were associated with likelihood of developing cognitive impairment with ageing. In men, rs728524, rs1255998, and rs1256030 were associated with cognitive impairment. A study of 6,200+ Dutch individuals did not replicate previously reported associations between this SNP (rs9340799) and risk of ischemic stroke. A study of 702 cases with invasive endometrial cancer concluded that the less common alleles of SNP rs9340799 lowered risk for the disease. The odds ratio was 0.75 (CI: 0.60-0.93) for (A;G) and 0.53 (CI: 0.37-0.77) for (G;G) compared to rs9340799(A;A) individuals. Endometriosis Uterine Fibroids

A;A

Men have zero risk, but can pass this on to their daughters. This is the normal version of Estrogen Receptor 1 (alpha). It has more cognitive decline than the rare version, with old women only remembering half as much details on the East Boston Memory Test immediate recall test.

A;G

Men have zero risk, but can pass this on to their daughters. One normal and one rare version of Estrogen Receptor 1 (alpha).

G;G

Men have zero risk, but can pass it on to daughters. Endometriosis means that womb tissue grows outside the womb. This SNP is a change in Estrogen Receptor 1 (alpha). It also lowers risk of cognitive impairment in aging women - on the East Boston Memory Test immediate recall test, women with this had about 1.5 to 2.0 times greater odds of remembering story elements.

References

Source and license

Adapted from rs9340799 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.