{{Rsnum
|rsid=985694
|Gene=ESR1
|Chromosome=6
|position=151965490
|Orientation=plus
|GMAF=0.2507
|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 | 74.3 | 21.2 | 4.4
| HCB | 23.7 | 51.9 | 24.4
| JPT | 18.6 | 60.2 | 21.2
| YRI | 68.3 | 28.3 | 3.4
| ASW | 77.2 | 22.8 | 0.0
| CHB | 23.7 | 51.9 | 24.4
| CHD | 28.7 | 44.4 | 26.9
| GIH | 35.6 | 49.5 | 14.9
| LWK | 72.7 | 22.7 | 4.5
| MEX | 72.4 | 25.9 | 1.7
| MKK | 60.3 | 32.7 | 7.1
| TSI | 78.2 | 18.8 | 3.0
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs985694
|Name_s=
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:18854778
|Annotation=The T allele of this SNP, which is located in intron 4 of the ESR1 gene, was associated with type 2 diabetes (diabetes mellitus, type 2) in a French population, but not in a Swedish cohort.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162360221
}}

{{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=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=rs985694
|overall_frequency_n=73
|overall_frequency_d=90
|overall_frequency=0.811111
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=52
|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 | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | Illumina Human 1M}}