{{Rsnum
|rsid=3020314
|Gene=ESR1
|Chromosome=6
|position=151949537
|Orientation=plus
|GMAF=0.433
|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 | 8.0 | 35.4 | 56.6
| HCB | 62.8 | 34.3 | 2.9
| JPT | 62.8 | 33.6 | 3.5
| YRI | 61.2 | 34.0 | 4.8
| ASW | 38.6 | 50.9 | 10.5
| CHB | 62.8 | 34.3 | 2.9
| CHD | 67.9 | 28.4 | 3.7
| GIH | 26.7 | 48.5 | 24.8
| LWK | 47.3 | 46.4 | 6.4
| MEX | 37.9 | 36.2 | 25.9
| MKK | 43.6 | 39.1 | 17.3
| TSI | 10.8 | 44.1 | 45.1
| HapMapRevision=28
}}Associated with (reduced) risk for follicular [[lymphoma]]. Based on studying ~1,300 patients in 2 populations, for (C;C) homozygotes, the odds ratio was 0.42 (CI: 0.23-0.77), and for the (C;T) heterozygotes, 0.64 (CI: .46-.88), p(trend) = 4x10e-4.  {{PMID|18636124|OA=1
}}

{{PMID|19126777|OA=1
}} estrogen receptor-positive [[breast cancer]] risk  (C) have an Odds Ratio (OR) = 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P= 0.004. 

{{PharmGKB
|RSID=rs3020314
|Name_s=
|Gene_s=ESR1
|Feature=
|Evidence=PubMed ID:18854778
|Annotation=In a French study population, the C allele of this SNP, which is located in intron 4 of ESR1, was associated with increased incidence of type 2 diabetes (diabetes mellitus, type 2). The C allele of this SNP was associated with increased fasting plasma glucose levels in Swedish males, although there was no significant association in the Swedish cohort between this SNP and type 2 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA162360220
}}

{{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=17367212
|Title=Association between common variation in 120 candidate genes and breast cancer risk.
|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=18678289
|Title=Polymorphisms in the estrogen receptor genes are associated with hip fractures in Chinese.
}}

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

{{PMID Auto
|PMID=19152063
|Title=Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.
}}

{{PMID Auto
|PMID=19760036
|Title=Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3020314
|overall_frequency_n=56
|overall_frequency_d=128
|overall_frequency=0.4375
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=46
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23641305
|Title=ESR1 single nucleotide polymorphisms predict breast cancer susceptibility in the central European Caucasian population
|OA=1
}}

{{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 | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}