rs2046210
A SNP on chromosome 6. Its most notable genotype is A;A: 1.6x increased breast cancer risk in certain women
- Gene
- None listed
- Location
- Chr 6151,627,231 (GRCh38)
- Highest magnitude
- 1.6Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 38%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBad1.4x increased breast cancer risk
- A;AMost notableBad1.6x increased breast cancer risk in certain women
SNPedia records rs2046210 on the minus strand: (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.
- AverageG;G 34% A;G 44% A;A 22%
- European ancestry (Utah)G;G 48% A;G 47% A;A 5%
- Han Chinese (Beijing)G;G 39% A;G 47% A;A 15%
- Japanese (Tokyo)G;G 50% A;G 37% A;A 13%
- Yoruba (Nigeria)G;G 11% A;G 42% A;A 48%
- African ancestry (Southwest US)G;G 13% A;G 55% A;A 32%
- Chinese (Denver)G;G 44% A;G 41% A;A 15%
- Gujarati IndianG;G 48% A;G 40% A;A 13%
- Luhya (Kenya)G;G 16% A;G 43% A;A 42%
- Mexican ancestry (Los Angeles)G;G 60% A;G 33% A;A 7%
- Maasai (Kenya)G;G 10% A;G 56% A;A 34%
- TuscanG;G 40% A;G 45% A;A 15%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 150 words
rs2046210 is a SNP upstream of the estrogen receptor alpha ESR1 gene. A study of ~7,000 breast cancer cases among Chinese women concluded that rs2046210 was associated with increased risk for the disease; the odds ratio was 1.59 (CI: 1.4-1.82) and 1.36 (CI: 1.24-1.49) for homozygote and heterozygote carriers of a (T) allele (in dbSNP orientation), respectively. A pooled analysis of 31,000+ women found a positive association for rs2046210 and breast cancer risk in Chinese women (odds ratio 1.30, CI: 1.22-1.38, and 1.64, CI: 1.50-1.80, for the CT and TT genotypes (in dbSNP orientation), respectively, p(trend) = 1.54 × 10e-30), Japanese women (1.31, CI: 1.13-1.52, and 1.37, CI: 1.06-1.76, p(trend) = 2.51 × 10e-4), and European-ancestry American women (1.07, CI: 0.99-1.16, and 1.18, CI: 1.04-1.34, p(trend) 0.0069). No association with this SNP, however, was observed in African American women.
Source and license
Adapted from rs2046210 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.