Fig. 1
From: Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
The proportion of genes (n = 18,877) containing rare variation in individuals in various populations. A gene was considered mutated if at least one individual was heterozygous or homozygous for an uncommon or rare (MAF < 5%) variant anywhere in the gene. Variants were filtered by predicted consequence for (a) protein-altering (missense or potential loss-of-function) variants, or (b) potential loss-of-function variants only. Abbreviations: EUR, European. AFR, African. EAS, East Asian. SAS, South Asian. AMR, ad-mixed American