Fig. 1

PheWAS of rare variation in the selected ACMG-56 genes with psychiatric disorders. Show here are the PheWAS results of 9 genes listed in Table 1 with suggested significance. For each gene, five-panel results for all 37 tested psychiatric conditions are shown, separately for (1) all variants with MAF < 1%, (2) all non-synonymous variants, (3) all PTVs and damaging missense variants combined, (4) damaging missense variants, and (5) PTVs (from left to right). On the x-axis shows the -log10(p-value) of the burden tests. Each triangle represents a disorder, with an upright triangle indicating the gene is associated with an increased risk (OR > 1) of the disorder and an inverted triangle indicating a decreased risk (OR < 1). Genes with no qualifying variants present among the study participants were not tested and are left vacant in the figure. The vertical dotted grey line for each individual PheWAS signifies the nominal significance level of 0.05, and the vertical red solid line represents the Bonferroni-corrected significance (0.05/37 = 1.35 × 10–3). No association surpassed the study-wide significance at FDR < 0.05. The full set of PheWAS results for the ACMG-56 genes can be found in Table S6 & Figure S5