The effect sizes of significant rare variant associations were substantially higher than those of common variants (Wilcoxon P = 1.1 × 10−57) (Fig. 1c). While some significant variants are probably in linkage with nearby causal variants, associated PTVs and missense variants often represent the causal variant themselves26. Notably, associations for 13% (3 of 24) and 29% (96 of 326) of the significant PTVs and missense variants, respectively, have not been reported in FinnGen release 5, OMIM, ClinVar or the GWAS catalogue30–32 (Fig. 1d, Supplementary Table 4, 5).
