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Chunk #13 — Results — Functional annotations and pathway analyses — 1000 Genomes Project (1KGP)

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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
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>0.8) with at least one putative functional variant annotated in the 1KG reference. Three of the 14 BMD loci associated with fracture contained putative functional variants tagged by the top SNPs of the BMD meta-analysis. These included the known rs3736228 LRP5 (Ala→Val) functional marker,16,18 the intronic marker rs3779381 within a promoter/regulatory region of WNT16, and one intronic marker (rs4305309) within a promoter/regulatory region of SPTBN1.