{{Rsnum
|rsid=1256049
|Gene=ESR2
|Chromosome=14
|position=64257333
|Orientation=minus
|ReferenceAllele=G
|GMAF=0.1281
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ESR2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 6.2 | 93.8
| HCB | 12.4 | 39.4 | 48.2
| JPT | 10.6 | 38.1 | 51.3
| YRI | 0.7 | 17.0 | 82.3
| ASW | 0.0 | 15.8 | 84.2
| CHB | 12.4 | 39.4 | 48.2
| CHD | 11.9 | 43.1 | 45.0
| GIH | 0.0 | 5.9 | 94.1
| LWK | 0.0 | 20.9 | 79.1
| MEX | 0.0 | 5.2 | 94.8
| MKK | 0.0 | 17.3 | 82.7
| TSI | 0.0 | 6.9 | 93.1
| HapMapRevision=28
}}

[[rs1256049]] is a SNP in the estrogen receptor 2 gene [[ESR2]].

{{PMID|18939943}} [[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.

{{PMID Auto
|PMID=19298602
|Title=Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians.
}}

{{PMID Auto
|PMID=19111408
|Title=Association of estrogen receptor 2 gene polymorphisms with obesity in women (obesity and estrogen receptor 2 gene)
|OA=1
}}

{{PMID Auto
|PMID=19032032
|Title=Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women
|OA=1
}}
{{PMID Auto
|PMID=19715484
|Title=No Association between Estrogen Receptor Beta (ESR2) Polymorphisms and Uterine Leiomyoma
}}

{{PharmGKB
|RSID=rs1256049
|Name_s=ESR2:1082G>A; ESR2:Val328Val; ESR2:rs1256049
|Gene_s=ESR2
|Feature=Exon/Syn
|Evidence=PubMed ID:11803451; PubMed ID:15280642; PubMed ID:15381922; PubMed ID:16261413; PubMed ID:17702854
|Annotation=No association with cancer, possibly protective of cardiovascular disease, associated with anorexia.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145065
}}

{{PMID Auto
|PMID=20390341
|Title=A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk
}}
{{PMID Auto
|PMID=20172949
|Title=Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China
|OA=1
}}

{{PMID Auto
|PMID=21523342
|Title=Association of Rsa polymorphism of the estrogen receptor-? gene with rheumatoid arthritis
}}

{{PMID Auto
|PMID=22511967
|Title=Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India
|OA=1
}}

{{PMID Auto
|PMID=22678799
|Title=[Association between estrogen receptor beta gene polymorphisms in Chinese Uygur patients and intrahepatic cholestasis of pregnancy]
}}

{{PMID Auto
|PMID=22759347
|Title=Association of estrogen receptor beta variants and serum levels of estradiol with risk of colorectal cancer: a case control study
|OA=1
}}

{{PMID|16083630}} [Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer].

{{PMID|16118344|OA=1
}} Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women.

{{PMID|17540666}} Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.

{{PMID|17916182}} CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men.

{{PMID|17935138|OA=1
}} Haplotypes of the estrogen receptor beta gene and breast cancer risk.

{{PMID|18053221|OA=1
}} Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.

{{PMID|18304720}} Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse.

{{PMID|18487282}} Association between ESR2 genetic variants and risk of myocardial infarction.

{{PMID|18579753|OA=1
}} Vascular actions of estrogens: functional implications.

{{PMID|18592033|OA=1
}} Sex steroid-related candidate genes in psychiatric disorders.

{{PMID|18627768}} Pharmacogenetics of hormone replacement therapy for climacteric symptoms.

{{PMID|18805939|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

{{PMID|18980759}} Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.

{{PMID|18992263|OA=1
}} Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

{{PMID|19337586|OA=1
}} Do Estrogen Receptor beta Polymorphisms Play A Role in the Pharmacogenetics of Estrogen Signaling?

{{PMID|19438492}} Estrogen receptor polymorphisms and the risk of endometrial cancer.

{{PMID|19555469|OA=1
}} A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis.

{{PMID|19630952|OA=1
}} Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

{{PMID|19927160}} Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

{{PMID|20346360|OA=1
}} Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

{{PMID|20655613|OA=1
}} Haplotypes of estrogen receptor-beta and risk of non-small cell lung cancer in women.

{{PMID|21429951}} Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

{{PMID|21570196}} Estrogen receptor gene variants are associated with anxiety disorders in older women.

{{PMID|21762042}} Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis.

{{PMID|21804148|OA=1
}} Oestrogen receptor polymorphisms and late-life depression.

{{PMID|22228197}} 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.

{{PMID|22324545}} Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?

{{PMID|22463697}} Association of polymorphisms in the estrogen receptor beta (ESR2) with unexplained recurrent spontaneous abortion (URSA) in Chinese population.

{{PMID Auto
|PMID=23352710
|Title=The single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049, is associated with knee osteoarthritis in Korean population
}}

{{PMID Auto
|PMID=23506158
|Title=Estrogen receptor alpha single nucleotide polymorphism as predictor of diabetes type 2 risk in hypogonadal men
}}

{{PMID Auto
|PMID=23686919
|Title=Impact of polymorphisms in the oestrogen receptors alpha and beta (ESR1, ESR2) genes on risk of vasculogenic erectile dysfunction
}}

{{PMID Auto
|PMID=23274843
|Title=Given breast cancer, is fat better than thin? Impact of the estrogen receptor beta gene polymorphisms
}}

{{PMID Auto
|PMID=24859835
|Title=The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk
}}

{{PMID Auto
|PMID=25128001
|Title=Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}