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. Author manuscript; available in PMC: 2020 Apr 1.
Published in final edited form as: Breast Cancer Res Treat. 2018 Dec 17;174(2):401–412. doi: 10.1007/s10549-018-05087-7

Table 1: ER S118P variant allele frequency in the general population.

Publicly available datasets establish a minor allele frequency for this variant ranging from 0.0016 to 0.0098.

Source Variant Allele Count Total Allele Count Allele Frequency
Exome Aggregation Consortium (ExAC) 312 31964 .0098 *2 homozygotes
Exome Variant Server (GO-ESP) 31 12278 .0025 *0 homozygotes
Atherosclerosis Risk in Communities 44 15726 .0028
TOPMed 78 .0027
1000 Genomes 8 .0016