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Chunk #15 — RESULTS — Evaluation of copy number variants (CNVs) and nonsynonymous changes

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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
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One CNV-tagging SNP (rs1294421, LY86) was observed amongst our 14 WHR-associated loci. This SNP is in strong LD (r2 = 0.98) with a 2,832 bp duplication variant (CNVR2760.1)27, located 12 kb from an expressed sequence tag (BC039678) and 87 kb from LY86, such that the duplication allele is associated with reduced WHR. The duplicated region consists entirely of noncoding sequence but includes part of a predicted enhancer sequence (E.5552.1)28.