Figure 4 | Scientific Reports

Figure 4

From: Common sequence variants affect molecular function more than rare variants?

Figure 4

Common SAVs predicted with more effect than rare SAVs. We grouped SAVs by their observed frequency in 1KG and 60KE exome data: rare (LDAF < 1%: dark blue triangles), uncommon (1% ≤ LDAF < 5%: not displayed), and common (LDAF ≥ 5%: black squares). The potential mutational background for human was estimated by randomly selecting a set of SNV-possible SAVs (gray circles). The curves for rare SAVs were similar to the results for all SAVs (Fig. 1, purple triangles for 60KE) since counting only unique SAVs the results were dominated by rare SAVs. Rare SAVs were predicted below randomly chosen SNV-possible SAVs, although the recent 60KE set came close to random. In contrast, the set of common SAVs remained substantially above the random curve for both common-1KG and common-60KE (Kolmogorv-Smirnov, estimated p-value < 2.2e-16 in both cases).

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