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Chunk #0 — RESULTS — Loci with multiple associated variants

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Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.
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Using summary statistics (effect size, standard error and allele frequency) of ~2.5 million SNPs from the GIANT meta-analysis of 133,653 individuals for height3 and 123,865 individuals for BMI4 along with SNP LD estimated in 6,654 unrelated European-Americans selected from the Atherosclerosis Risk in Communities (ARIC) study (Online Methods), we identified 247 jointly associated SNPs for height and 33 for BMI with P < 5 × 10–8 (Supplementary Tables 1–3). For the convenience of presentation and the summary of results, we define a locus as a chromosomal region at which adjacent pairs of associated SNPs are less than 1 Mb distant, and we define alleles of two SNPs to be positively (negatively) correlated if their disequilibrium parameter D is positive (negative)13. Of the 247 SNPs associated with height, 87 at 36 loci represent multiple associated SNPs within a single locus (Table 1 and Supplementary Tables 1 and 2), and all 36 loci are located in the genomic regions known to be associated with height3. We did not find any locus with multiple associated SNPs for BMI (Supplementary Tables 1 and 3).