Among trait-associated SNPs as represented in the NHGRI catalog, we found a significant overrepresentation (p = 0.01) for tCNVs (r2≥0.80). Figure 2 shows the distribution of the number of tag SNPs generated from 1000 random sets of SNPs matching the minor allele frequency of the trait-associated SNPs. Table 2 shows the observed overlap between the trait-associated SNPs and the tCNVs (r2≥0.80). Enrichment analysis of disease classes shows that the observed tCNV enrichment for reproducible trait associations holds for autoimmune disorders and in quantitative metabolic traits.
