rs2228480
A SNP in the ESR1 gene on chromosome 6. Its most notable genotype is G;G: common in complete genomics
- Gene
- ESR1
- Location
- Chr 6152,098,960 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 18%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). 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 69%
- European ancestry (Utah)G;G 77%
- Han Chinese (Beijing)G;G 64%
- Japanese (Tokyo)G;G 73%
- Yoruba (Nigeria)G;G 74%
- African ancestry (Southwest US)G;G 67%
- Chinese (Denver)G;G 63%
- Gujarati IndianG;G 59%
- Luhya (Kenya)G;G 76%
- Mexican ancestry (Los Angeles)G;G 59%
- Maasai (Kenya)G;G 74%
- TuscanG;G 70%
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
haplotype less common in schizophrenia rs2273206(T), rs2273207(G), rs2228480(G). {{PMID Auto |PMID=19926619 |Title=Association of Estrogen Receptor {alpha} Genotypes/Haplotypes With Carotid Intima-Media Thickness in Taiwanese Women }}
Source and license
Adapted from rs2228480 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.