{{Rsnum
|rsid=1801132
|Gene=ESR1
|Chromosome=6
|position=151944387
|Orientation=plus
|GMAF=0.2617
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ESR1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 67.3 | 31.0 | 1.8
| HCB | 25.7 | 45.6 | 28.7
| JPT | 21.4 | 64.3 | 14.3
| YRI | 87.1 | 12.2 | 0.7
| ASW | 86.0 | 12.3 | 1.8
| CHB | 25.7 | 45.6 | 28.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 41.6 | 44.6 | 13.9
| LWK | 91.7 | 8.3 | 0.0
| MEX | 52.6 | 42.1 | 5.3
| MKK | 92.2 | 7.8 | 0.0
| TSI | 63.7 | 30.4 | 5.9
| HapMapRevision=28
}}{{PMID Auto
|PMID=18680103
|Title=Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study
}}

{{PMID Auto
|PMID=19673915
|Title=Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C--&gt;G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population
}}

{{PharmGKB
|RSID=rs1801132
|Name_s=ESR1: 975C>G, Pro325Pro
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:18837888
|Annotation=Risk or phenotype-associated allele: rs1801132 CC genotype. Phenotype: Increased prevalence of breast cancer in individuals with the combined genotypes of ESR1 rs1801132 CC and ERBB2 665 Ile/Val (rs1136201 A/C). Study size: 100 breast cancer patients (98 females) and 90 controls (84 females). Study population/ethnicity: Sudanese patients diagnosed between June 2004 and July 2005 in Khartoum. Significance metric(s): adjusted OR = 4.9; p = 0.05. Type of association: GN; CO.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291440
}}
{{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=20109228
|Title=Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
|OA=1
}}
{{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=rs1801132
|Name_s=ESR1:C325G
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:16361951; PubMed ID:16504171
|Annotation=One positive and one negative association with migraine susceptibility.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145057
}}

{{PMID Auto
|PMID=21528353
|Title=Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population
}}

{{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=15217512
|Title=Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=16292600
|Title=Association analysis of estrogen receptor alpha gene polymorphisms with cross-sectional geometry of the femoral neck in Caucasian nuclear families.
}}

{{PMID Auto
|PMID=17116097
|Title=Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura.
}}

{{PMID Auto
|PMID=17268813
|Title=Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women.
}}

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

{{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=18271972
|Title=ESR1 and EGF genetic variation in relation to breast cancer risk and survival.
|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=18445666
|Title=Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.
|OA=1
}}

{{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=18511131
|Title=Estrogen receptor gene 1 variants are not associated with suicidal behavior.
}}

{{PMID Auto
|PMID=18636479
|Title=Common genetic influences underlie comorbidity of migraine and endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18787887
|Title=Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
|OA=1
}}

{{PMID Auto
|PMID=18990228
|Title=Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=19175383
|Title=Lack of association of hormone receptor polymorphisms with migraine.
}}

{{PMID Auto
|PMID=19194457
|Title=Association between arterial stiffness and variations in oestrogen-related genes.
|OA=1
}}

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

{{PMID Auto
|PMID=19319135
|Title=Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.
|OA=1
}}

{{PMID Auto
|PMID=19375130
|Title=Estrogen receptor 1 gene polymorphisms and decreased risk of obesity in 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=19884274
|Title=The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand.
|OA=1
}}

{{PMID Auto
|PMID=19941161
|Title=Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer.
}}

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

{{PMID Auto
|PMID=22011627
|Title=Genetic polymorphisms in estrogen receptors and sexual dimorphism in fat redistribution in HIV-infected patients on HAART.
}}

{{PMID Auto
|PMID=22324545
|Title=Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801132
|overall_frequency_n=8750
|overall_frequency_d=10758
|overall_frequency=0.813348
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=85
|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 | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}