{{Rsnum
|rsid=722208
|Gene=ESR1
|Chromosome=6
|position=152001750
|Orientation=plus
|GMAF=0.4123
|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 | 57.7 | 36.9 | 5.4
| HCB | 24.2 | 51.5 | 24.2
| JPT | 23.9 | 53.2 | 22.9
| YRI | 8.5 | 50.7 | 40.8
| ASW | 17.9 | 57.1 | 25.0
| CHB | 24.2 | 51.5 | 24.2
| CHD | 22.4 | 45.8 | 31.8
| GIH | 32.0 | 43.0 | 25.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 71.9 | 22.8 | 5.3
| MKK | 19.0 | 41.8 | 39.2
| TSI | 61.8 | 29.4 | 8.8
| HapMapRevision=28
}}{{PMID|19574343|OA=1
}} Further noteworthy novel findings were observed between SNPs in ESR1 with testosterone levels ([[rs722208]], mean difference = 8.8%, P = 7.37 x 10–6) and SRD5A2 with 3-androstanediol-glucuronide ([[rs2208532]], mean difference = 11.8%, P = 1.82 x 10–6).

{{PMID Auto
|PMID=17903303
|Title=Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
|OA=1
}}

{{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=18350145
|Title=Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.
|OA=1
}}

{{PMID Auto
|PMID=18636124
|Title=Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=18654799
|Title=Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.
|OA=1
}}

[[Sex Hormone Regulation]]

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}