{{Rsnum
|rsid=3020317
|Gene=ESR1
|Chromosome=6
|position=151957606
|Orientation=plus
|GMAF=0.2929
|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 | 3.5 | 19.5 | 77.0
| HCB | 22.8 | 48.5 | 28.7
| JPT | 18.0 | 53.2 | 28.8
| YRI | 9.0 | 40.7 | 50.3
| ASW | 5.3 | 31.6 | 63.2
| CHB | 22.8 | 48.5 | 28.7
| CHD | 22.2 | 44.4 | 33.3
| GIH | 12.9 | 49.5 | 37.6
| LWK | 11.8 | 49.1 | 39.1
| MEX | 3.4 | 24.1 | 72.4
| MKK | 10.3 | 41.0 | 48.7
| TSI | 4.9 | 22.5 | 72.5
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs3020317
|Name_s=
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:18854778
|Annotation=In a Swedish population, but not in a French population, the C allele of this SNP was associated with increased fasting plasma glucose levels. This SNP was not associated with type 2 diabetes in either study population.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162360223
}}

{{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=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=19124506
|Title=Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19126777
|Title=Association of ESR1 gene tagging SNPs with breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19218192
|Title=Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3020317
|overall_frequency_n=93
|overall_frequency_d=126
|overall_frequency=0.738095
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=82
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

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