{{Rsnum
|rsid=1999805
|Gene=ESR1
|Chromosome=6
|position=151747229
|Orientation=minus
|GMAF=0.4876
|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 | 13.4 | 47.3 | 39.3
| HCB | 51.1 | 39.4 | 9.5
| JPT | 60.2 | 34.5 | 5.3
| YRI | 16.3 | 55.1 | 28.6
| ASW | 19.3 | 57.9 | 22.8
| CHB | 51.1 | 39.4 | 9.5
| CHD | 54.1 | 39.4 | 6.4
| GIH | 35.6 | 46.5 | 17.8
| LWK | 26.4 | 49.1 | 24.5
| MEX | 27.6 | 43.1 | 29.3
| MKK | 27.6 | 47.4 | 25.0
| TSI | 11.8 | 48.0 | 40.2
| HapMapRevision=28
}}rs1999805 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele {{PMID|18445777}}

{{omim
|desc=BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
|id=612114
|rsnum=1999805
}}

{{PMID Auto
|PMID=21760950
|Title=The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men
|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=19181680
|Title=Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.
|OA=1
}}

{{PMID Auto
|PMID=20072603
|Title=Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1999805
|overall_frequency_n=68
|overall_frequency_d=128
|overall_frequency=0.53125
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=59
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24481879
|Title=Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}