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Chunk #4 — 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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We extracted the GIANT summary statistics of the 247 associated SNPs and performed a joint analysis of these SNPs with their LD estimated in 3,924 unrelated Australians of British Isles ancestry14 selected from a GWAS cohort at the Queensland Institute of Medical Research (QIMR) (Online Methods). The allele frequencies of the 247 SNPs estimated from either the ARIC or the QIMR cohort were consistent with those reported by the GIANT meta-analysis (Supplementary Fig. 1). The joint effects and their corresponding P values, obtained from the joint analysis using the ARIC cohort as a reference sample, showed good agreement with those obtained using the QIMR cohort as the reference sample (Supplementary Fig. 2 and Supplementary Table 2), suggesting that the results are robust with respect to the choice of reference sample.