{{Rsnum
|rsid=2228480
|Gene=ESR1
|Chromosome=6
|position=152098960
|Orientation=plus
|GMAF=0.1795
|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 | 3.5 | 19.5 | 77.0
| HCB | 4.4 | 31.4 | 64.2
| JPT | 1.8 | 25.7 | 72.6
| YRI | 0.7 | 25.3 | 74.0
| ASW | 8.8 | 24.6 | 66.7
| CHB | 4.4 | 31.4 | 64.2
| CHD | 1.8 | 34.9 | 63.3
| GIH | 5.0 | 36.0 | 59.0
| LWK | 0.0 | 23.6 | 76.4
| MEX | 5.2 | 36.2 | 58.6
| MKK | 2.6 | 23.7 | 73.7
| TSI | 3.9 | 26.5 | 69.6
| HapMapRevision=28
}}

{{PMID|18424448|OA=1
}} haplotype less common in [[schizophrenia]] [[rs2273206]](T), [[rs2273207]](G), [[rs2228480]](G).

{{PMID Auto
|PMID=19519176
|Title=Association of polymorphisms in estrogen and thyroid hormone receptors with thyroid cancer risk
}}

{{PMID Auto
|PMID=19860576
|Title=Association of EGFR and HER2 Polymorphisms with Risk and Clinical Features of Thyroid Cancer
}}
{{PMID Auto
|PMID=19926619
|Title=Association of Estrogen Receptor {alpha} Genotypes/Haplotypes With Carotid Intima-Media Thickness in Taiwanese Women
}}

{{PharmGKB
|RSID=rs2228480
|Name_s=ESR1:1782G>A; T594T
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:19860576
|Annotation=Risk or phenotype-associated allele: not available in abstract. Phenotype: Positive association between rs2228480 SNP and thyroglobulin levels in thyroid cancer. Study size: 106 cases and 302 controls. Study population/ethnicity: Thyroid cancer patients and healthy individuals. Significance metric(s): not available in abstract. Type of association: CO; GN.
|Drugs=
|Drug Classes=
|Diseases=Thyroid Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291588
}}
{{PMID Auto
|PMID=20046055
|Title=Association of the G2014G genotype in estrogen receptor 1 gene with failure of the mifepristone-induced termination of early pregnancy
}}

{{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=20128071
|Title=Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G--&gt;A) and thai patients affected by knee osteoarthritis
}}

{{PMID Auto
|PMID=20383761
|Title=Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies
}}
{{PMID Auto
|PMID=20172949
|Title=Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China
|OA=1
}}
{{PMID Auto
|PMID=20429621
|Title=Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer
}}

{{PharmGKB
|RSID=rs2228480
|Name_s=ESR1:G594A; ESR1:BtgI; ESR1:G2014A; ESR1:rs2228480
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:15133719; PubMed ID:15654614; PubMed ID:16361951; PubMed ID:16504171; PubMed ID:17109894; PubMed ID:17116097
|Annotation=Often found to be associated with migraines, not associated with multiple sclerosis.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145054
}}

{{PMID Auto
|PMID=22511967
|Title=Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India
|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=15268889
|Title=Test of linkage and/or association between the estrogen receptor alpha gene with bone mineral density in Caucasian nuclear families.
}}

{{PMID Auto
|PMID=17609999
|Title=Association of progesterone receptor with migraine-associated vertigo.
}}

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

{{PMID Auto
|PMID=18627768
|Title=Pharmacogenetics of hormone replacement therapy for climacteric symptoms.
}}

{{PMID Auto
|PMID=18636479
|Title=Common genetic influences underlie comorbidity of migraine and endometriosis.
|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=19175383
|Title=Lack of association of hormone receptor polymorphisms with migraine.
}}

{{PMID Auto
|PMID=19636371
|Title=Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.
|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=19941161
|Title=Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer.
}}

{{PMID Auto
|PMID=20729390
|Title=Serum estrogen and tumor-positive estrogen receptor-alpha are strong prognostic classifiers of non-small-cell lung cancer survival in both men and women.
|OA=1
}}

{{PMID Auto
|PMID=21429951
|Title=Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228480
|overall_frequency_n=1829
|overall_frequency_d=10758
|overall_frequency=0.170013
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=25116933
|Title=Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}