{{Rsnum
|rsid=3798577
|Gene=ESR1
|Chromosome=6
|position=152099995
|Orientation=plus
|GMAF=0.4399
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ESR1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 22.1 | 44.2 | 33.6
| HCB | 18.2 | 48.9 | 32.8
| JPT | 15.9 | 45.1 | 38.9
| YRI | 21.8 | 46.3 | 32.0
| ASW | 19.3 | 54.4 | 26.3
| CHB | 18.2 | 48.9 | 32.8
| CHD | 12.8 | 52.3 | 34.9
| GIH | 28.7 | 47.5 | 23.8
| LWK | 18.2 | 45.5 | 36.4
| MEX | 22.4 | 43.1 | 34.5
| MKK | 20.0 | 49.7 | 30.3
| TSI | 19.6 | 52.9 | 27.5
| HapMapRevision=28
}}{{PMID Auto
|PMID=19926619
|Title=Association of Estrogen Receptor {alpha} Genotypes/Haplotypes With Carotid Intima-Media Thickness in Taiwanese Women
}}

{{PharmGKB
|RSID=rs3798577
|Name_s=ESR1:rs3798577
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:16949384; PubMed ID:16949387; PubMed ID:16949390; PubMed ID:16949392
|Annotation=Associated with several different conditions, particularly among women.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145055
}}

{{PMID Auto
|PMID=20383761
|Title=Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies
}}
{{PMID Auto
|PMID=20429621
|Title=Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer
}}

{{PMID Auto
|PMID=16949383
|Title=Sex steroid hormone pathway genes and health-related measures in women of 4 races/ethnicities: the Study of Women's Health Across the Nation (SWAN).
}}

{{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=18450649
|Title=ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study.
|OA=1
}}

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

{{PMID Auto
|PMID=18629629
|Title=Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women.
}}

{{PMID Auto
|PMID=18698231
|Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
|OA=1
}}

{{PMID Auto
|PMID=19094228
|Title=The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
|OA=1
}}

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

{{PMID Auto
|PMID=19693267
|Title=Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
|OA=1
}}

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

{{PMID Auto
|PMID=20304699
|Title=Polymorphisms of caffeine metabolism and estrogen receptor genes and risk of Parkinson's disease in men and women.
|OA=1
}}

{{PMID Auto
|PMID=20375995
|Title=Estrogen receptor 1 gene (ESR1) is associated with restrictive anorexia nervosa.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3798577
|overall_frequency_n=50
|overall_frequency_d=128
|overall_frequency=0.390625
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=46
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24282178
|Title=Association study of the estrogen receptor I gene (ESR1) in anorexia nervosa and eating disorders: no replication found
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}