rs1256049
A SNP in the ESR2 gene on chromosome 14. Its most notable genotype is C;C: common in complete genomics
- Gene
- ESR2
- Location
- Chr 1464,257,333 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 13%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1256049 on the minus strand: (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.
- AverageC;C 77%
- European ancestry (Utah)C;C 94%
- Han Chinese (Beijing)C;C 48%
- Japanese (Tokyo)C;C 51%
- Yoruba (Nigeria)C;C 82%
- African ancestry (Southwest US)C;C 84%
- Chinese (Denver)C;C 45%
- Gujarati IndianC;C 94%
- Luhya (Kenya)C;C 79%
- Mexican ancestry (Los Angeles)C;C 95%
- Maasai (Kenya)C;C 83%
- TuscanC;C 93%
Related
Notes
From SNPedia
Show notes, about 510 words
rs1256049 is a SNP in the estrogen receptor 2 gene ESR2. rs1256049(A) allele carriers have higher mean carotid artery intima-media thickness (CIMT) as well as maximal CIMT, but this result may be limited to the population studied, in this case individuals from the Cardiovascular Risk in Young Finns study. [Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer]. Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. Haplotypes of the estrogen receptor beta gene and breast cancer risk. Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study. Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse. Association between ESR2 genetic variants and risk of myocardial infarction. Vascular actions of estrogens: functional implications. Sex steroid-related candidate genes in psychiatric disorders. Pharmacogenetics of hormone replacement therapy for climacteric symptoms. Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Do Estrogen Receptor beta Polymorphisms Play A Role in the Pharmacogenetics of Estrogen Signaling? Estrogen receptor polymorphisms and the risk of endometrial cancer. A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis. Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women. Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. Haplotypes of estrogen receptor-beta and risk of non-small cell lung cancer in women. Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility. Estrogen receptor gene variants are associated with anxiety disorders in older women. Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis. Oestrogen receptor polymorphisms and late-life depression. Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian men. Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy? Association of polymorphisms in the estrogen receptor beta (ESR2) with unexplained recurrent spontaneous abortion (URSA) in Chinese population.
Source and license
Adapted from rs1256049 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.