Figure 3.
Results of the gene-based collapsing analysis for rare variants with MAF <0.1%
The p values (y axis, negative log10) are plotted for 52 genes (x axis, sorted alphabetically). The various case-control definitions (see Table 1; excluding sex-stratified analyses) are depicted as symbols, while variant deleteriousness classes are coded according to color (M1: pLoF, M3 and M4: pLoF and moderate effect variants including missense in two graduations, C10+M1: CADD >10 or pLoF, SYN: synonymous, see subjects and methods). Dashed line: Strict significance threshold, correcting for all tests conducted: (α = 8.7 × 10−6). Dotted line: Lenient significance threshold, correcting for the number of genes tested (α = 9.6 × 10−4). Results for sex-stratified analyses and variants with MAF <1% are provided in Figure S4.