rs2295190
A SNP in the ESR1 gene on chromosome 6. Its most notable genotype is T;T: Slightly increased risk for ovarian cancer in women
- Gene
- ESR1
- Location
- Chr 6152,122,609 (GRCh38)
- Highest magnitude
- 1.2Minor
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 9%
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon
- G;TBadSlightly increased risk for ovarian cancer in women
- T;TMost notableBadSlightly increased risk for ovarian cancer in women
On SNPedia: (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 4 HapMap populations.
- AverageG;G 82% G;T 16% T;T 2%
- European ancestry (Utah)G;G 71% G;T 25% T;T 5%
- Han Chinese (Beijing)G;G 91% G;T 7% T;T 2%
- Japanese (Tokyo)G;G 69% G;T 31% T;T 0%
- Yoruba (Nigeria)G;G 98% G;T 2% T;T 0%
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
- rs728524A;Acommon in complete genomicsTypical
- rs2179922A;Amales 1-2cm shorter on averageTypical
- rs2228480G;Gcommon in complete genomicsTypical
Notes
From SNPedia
Notes
rs2295190 is a SNP in the spectrin repeat containing, nuclear envelope 1 SYNE1 gene, located 19kb downstream of the estrogen receptor alpha ESR1 gene. A large study (over 5,000 cases) of ovarian cancer samples from the Ovarian Cancer Association Consortium concluded that carriers of a rs2295190(T) allele are at slightly increased risk for ovarian cancer (odds ratio 1.09, CI: 1.02-1.17, p=0.017).
Source and license
Adapted from rs2295190 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.