rs3020314
A SNP in the ESR1 gene on chromosome 6. Its most notable genotype is C;C: 0.42x reduced lymphoma risk
- Gene
- ESR1
- Location
- Chr 6151,949,537 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 43%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableNot rated0.42x reduced lymphoma risk
- C;TNot rated0.64x reduced lymphoma risk
- T;TNot ratednormal
On SNPedia: (C;C), (C;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 43% C;T 39% T;T 18%
- European ancestry (Utah)C;C 8% C;T 35% T;T 57%
- Han Chinese (Beijing)C;C 63% C;T 34% T;T 3%
- Japanese (Tokyo)C;C 63% C;T 34% T;T 4%
- Yoruba (Nigeria)C;C 61% C;T 34% T;T 5%
- African ancestry (Southwest US)C;C 39% C;T 51% T;T 11%
- Chinese (Denver)C;C 68% C;T 28% T;T 4%
- Gujarati IndianC;C 27% C;T 49% T;T 25%
- Luhya (Kenya)C;C 47% C;T 46% T;T 6%
- Mexican ancestry (Los Angeles)C;C 38% C;T 36% T;T 26%
- Maasai (Kenya)C;C 44% C;T 39% T;T 17%
- TuscanC;C 11% C;T 44% T;T 45%
Related
Conditions, medicines and genes
Other ESR1 SNPs
- rs9340799G;GWomen have 10x risk of Endometriosis, but half the risk of Endometrial Cancer and 0.76x less cognitive impairment.Important
- rs104893956C;TCarrier for an estrogen resistance mutationImportant
- rs121913044A;TCarrier for an estrogen resistance mutationImportant
- rs397509428G;TCarrier for an estrogen resistance mutationImportant
- rs2881766G;TSlightly increased risk for pregnancy-induced hypertensionMinor
- rs2295190T;TSlightly increased risk for ovarian cancer in womenMinor
- rs728524A;Acommon in complete genomicsTypical
- rs2179922A;Amales 1-2cm shorter on averageTypical
Notes
From SNPedia
Notes
Associated with (reduced) risk for follicular lymphoma. Based on studying ~1,300 patients in 2 populations, for (C;C) homozygotes, the odds ratio was 0.42 (CI: 0.23-0.77), and for the (C;T) heterozygotes, 0.64 (CI: .46-.88), p(trend) = 4x10e-4. estrogen receptor-positive breast cancer risk (C) have an Odds Ratio (OR) = 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P= 0.004.
Source and license
Adapted from rs3020314 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.