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. 2019 Jul 15;33(10):11163–11179. doi: 10.1096/fj.201900707R

TABLE 3.

Genetic variants in the NOTUM locus are associated with BMD

SNP Chr Position A1 A2 AF β SE P N
rs35344256 17 79934194 C A 0.69 −0.0134 0.0020 1.5E−11 445921
rs147901986 17 79921522 G A 0.97 0.0386 0.0059 4.6E−11 445921

Large-scale human genetic analyses revealed that genetic variants in the NOTUM locus are associated with BMD. We specifically searched for possible associations between imputed SNPs (minor allele frequency >1%) in the NOTUM locus ±25 kb (in total 125 SNPs with a minor allele frequency >1% were evaluated) and BMD as estimated by quantitative ultrasound of the heel. A1, effect allele; A2, other allele; AF, allele frequency of allele 1. Independent SNPs associated with BMD and with P < 1 × 10−10. β given as sd change in eBMD per effect allele.