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Chunk #19 — Genomic distribution of height-associated SNPs

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A saturated map of common genetic variants associated with human height.
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To examine signal density among the 12,111 GWS SNPs detected in our METAFE, we defined a measure of local density of association signals for each GWS SNP on the basis of the number of additional independent associations within 100 kb (Supplementary Fig. 15). Supplementary Fig. 16 shows the distributions of signal density for GWS SNPs identified in each ancestry group and in our METAFE. We observed that 69% of GWS SNPs shared their location with another associated, conditionally independent, GWS SNP (Fig. 2). The mean signal density across the entire genome is 2.0 (s.e. 0.14), consistent with a non-random genomic distribution of GWS SNPs. Next, we evaluated signal density around 462 autosomal genes curated from the Online Mendelian Inheritance in Man (OMIM) database18 as containing pathogenic mutations that cause syndromes of abnormal skeletal growth ('OMIM genes'; Methods and Supplementary Table 11). We found that a high density of height-associated SNPs is significantly correlated with the presence of an OMIM gene nearby19,20 (enrichment fold of OMIM gene when density is greater than 1: 2.5×; P < 0.001; Methods and Extended Data