{{Rsnum
|rsid=4986938
|Gene=ESR2
|Chromosome=14
|position=64233098
|Orientation=minus
|GMAF=0.2718
|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 | 14.2 | 47.8 | 38.1
| HCB | 2.2 | 23.4 | 74.5
| JPT | 0.9 | 29.2 | 69.9
| YRI | 6.8 | 37.4 | 55.8
| ASW | 12.3 | 38.6 | 49.1
| CHB | 2.2 | 23.4 | 74.5
| CHD | 1.8 | 20.2 | 78.0
| GIH | 10.9 | 37.6 | 51.5
| LWK | 8.3 | 47.7 | 44.0
| MEX | 6.9 | 25.9 | 67.2
| MKK | 10.3 | 49.0 | 40.6
| TSI | 22.5 | 41.2 | 36.3
| HapMapRevision=28
}}{{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=19473078
|Title=Estrogen receptor Beta gene variant is associated with vascular dementia in elderly women
}}

{{PMID Auto
|PMID=19386104
|Title=Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study
|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
}}

{{PharmGKB
|RSID=rs4986938
|Name_s=ESR2:1730A>G; ESR2:rs4986938
|Gene_s=ESR2
|Feature=Intron
|Evidence=PubMed ID:15381922; PubMed ID:16261413; PubMed ID:17702854
|Annotation=No association with cardiovascular disease, breast cancer, or lipoprotein levels.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145067
}}

{{PMID Auto
|PMID=19654868
|Title=Genetic polymorphisms of estrogen receptors alpha and beta and the risk of developing prostate cancer
|OA=1
}}

{{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=19739075
|Title=Polymorphisms in genes of the steroid receptor superfamily modify postmenopausal breast cancer risk associated with menopausal hormone therapy
}}
{{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
}}

{{PharmGKB
|RSID=rs4986938
|Name_s=ESR2-02
|Gene_s=ESR2
|Feature=Intron
|Evidence=PubMed ID:17713466
|Annotation=SNP is associated with tamoxifen-induced changes in total cholesterol and triglycerides in postmenopausal woman.
|Drugs=tamoxifen
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161613772
}}

{{PMID Auto
|PMID=20399928
|Title=Estrogen receptor beta gene polymorphism and intraocular pressure elevation in female patients with primary open-angle glaucoma.
}}

{{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 Auto
|PMID=22701696
|Title=Genetic Polymorphisms Influence the Ovarian Response to rFSH Stimulation in Patients Undergoing In Vitro Fertilization Programs with ICSI
|OA=1
}}

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

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

{{PMID Auto
|PMID=17941906
|Title=Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease.
}}

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

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

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

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

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

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

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

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

{{PMID Auto
|PMID=19754929
|Title=Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
|OA=1
}}

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

{{PMID Auto
|PMID=20080857
|Title=Endothelial function, but not carotid intima-media thickness, is affected early in menopause and is associated with severity of hot flushes.
}}

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

{{PMID Auto
|PMID=20961965
|Title=Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.
}}

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

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

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

{{PMID Auto
|PMID=22011627
|Title=Genetic polymorphisms in estrogen receptors and sexual dimorphism in fat redistribution in HIV-infected patients on HAART.
}}

{{PMID Auto
|PMID=22155094
|Title=Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease.
|OA=1
}}

{{PMID Auto
|PMID=22183267
|Title=Association of estrogen receptor beta gene polymorphisms with vascular dementia in women.
}}

{{PMID Auto
|PMID=22228197
|Title=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 Auto
|PMID=22324545
|Title=Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?
}}

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

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4986938
|overall_frequency_n=3563
|overall_frequency_d=10758
|overall_frequency=0.331195
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{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=22906475
|Title=The ESR2 AluI 1730G>A (rs4986938) gene polymorphism is associated with fibrinogen plasma levels in postmenopausal women.
}}

{{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}}