Supplementary Figure 2: Proportion of individuals within each phenotype category with 0, 1, 2, 3, or 4 crPTVs.

Simulated p value is chi-square test against Poisson expectation using observed mean, based on 10,000 replicates. Note that only one crPTV is counted per person per gene (removes approx. 0.2% of variants). crPTV = constrained (pLI ≥ 0.9) rare protein-truncating variant; ‘rare’ as described in the main text. ID = intellectual disability.