Fig. 3: Three ‘expanded’ phenotypes are enriched for minor alleles associated with a protective direction of effect.

a, The y axis represents the percentage of suggestively associated lead SNPs (two-sided inverse-variance-weighted trans-ancestry P < 1 × 10−5) for which the minor allele was protective. The size of each point represents the total number of independent suggestive SNPs for each of the eight phenotypes. The horizontal dashed line represents the mean proportion of protective minor alleles across all eight phenotypes. Point colors match the protective enrichment color scale described in panel b. b, Protective (blue) or risk (red) enrichment at four two-sided CMH enrichment P-value thresholds for each of the eight phenotypes relative to the remaining seven phenotypes. Darker shades correspond to greater magnitude of enrichment (larger CMH OR). Asterisks represent significance of CMH enrichment test (unadjusted two-sided *P < 0.0016; **P < 1 × 10−10; ***P < 1 × 10−100).