{{Rsnum
|rsid=2077647
|Gene=ESR1
|Chromosome=6
|position=151807942
|Orientation=minus
|GMAF=0.432
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ESR1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 32.1 | 49.1 | 18.8
| HCB | 40.1 | 40.9 | 19.0
| JPT | 41.6 | 40.7 | 17.7
| YRI | 30.6 | 43.5 | 25.9
| ASW | 17.5 | 47.4 | 35.1
| CHB | 40.1 | 40.9 | 19.0
| CHD | 40.4 | 44.0 | 15.6
| GIH | 29.7 | 52.5 | 17.8
| LWK | 34.5 | 51.8 | 13.6
| MEX | 32.8 | 53.4 | 13.8
| MKK | 21.8 | 57.1 | 21.2
| TSI | 41.6 | 48.5 | 9.9
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2077647
|Name_s=ESR1:S10S; ESR1:T30C; ESR1:T29C; ESR1:rs2077647
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:16144952; PubMed ID:16477637; PubMed ID:16522460; PubMed ID:16762623
|Annotation=Association studies with cancer, BMI, and asthma.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145058
}}

{{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=20383761
|Title=Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies
}}
{{PMID Auto
|PMID=19952760
|Title=Polymorphisms in estrogen related genes may modify the protective effect of isoflavones against prostate cancer risk in Japanese men
}}

{{PMID Auto
|PMID=22623973
|Title=An Improved PSO Algorithm for Generating Protective SNP Barcodes in Breast Cancer
|OA=1
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=16935316
|Title=Estrogen receptor alpha polymorphism and susceptibility to uterine leiomyoma.
}}

{{PMID Auto
|PMID=17372038
|Title=Age-related changes in echocardiographic measurements: association with variation in the estrogen receptor-alpha gene.
}}

{{PMID Auto
|PMID=18305958
|Title=Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.
|OA=1
}}

{{PMID Auto
|PMID=18385916
|Title=Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk.
}}

{{PMID Auto
|PMID=18408366
|Title=Estrogen receptor-alpha variants increase risk of Alzheimer's disease in women with Down syndrome.
|OA=1
}}

{{PMID Auto
|PMID=18445666
|Title=Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.
|OA=1
}}

{{PMID Auto
|PMID=18449864
|Title=Association study of the estrogen receptor alpha gene (ESR1) and childhood-onset mood disorders.
}}

{{PMID Auto
|PMID=18628428
|Title=Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19194457
|Title=Association between arterial stiffness and variations in oestrogen-related genes.
|OA=1
}}

{{PMID Auto
|PMID=19760036
|Title=Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=19884274
|Title=The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand.
|OA=1
}}

{{PMID Auto
|PMID=21837769
|Title=A cis-acting regulatory variation of the estrogen receptor alpha (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.
}}

{{PMID Auto
|PMID=22328322
|Title=Interaction between ESRalpha polymorphisms and environmental factors in osteoporosis.
}}

{{PMID Auto
|PMID=22580635
|Title=A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes.
|OA=1
}}

{{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}}