Figure 3.
Gene burden PheWAS of pLOF + pDM variants in MYH7. Gene burden PheWAS of pLOF variants (N = 27, Supplementary Material, Table S4) and pDM variants with REVEL ≥ 0.5 (N = 858, Supplementary Material, Table S6) in MYH7. Phecodes are plotted along the x-axis to represent the phenome, and the association of the gene burden with each Phecode is plotted along the y-axis representing –log10(P-value). The directionality of each triangular point represents the direction of effect. The top horizontal line represents the Bonferroni-corrected significance threshold to adjust for multiple testing (P = 3.58E-05), and the bottom horizontal line represents a nominal significance threshold (P = 0.05).