Figure 2: Meta-PheWAS for (a) ADPKD M1 variant carriers and (b) COL4A-AN M1 variant carriers.

This meta-analysis includes combined data from 460,360 UKBB and 74,350 AoU participants, with both genotype and phenotype data available. Both analyses were performed under the dominant inheritance model and adjusted for age, sex, diabetes, batch, and ancestry. The red horizontal lines indicate a phenome-wide significance level after accounting for the number of phecodes tested (P=2.8E-05). Y-axis: -log10(P-value) from fixed effects meta-analysis. P-values are two-sided and provided without accounting for multiple testing. X-axis: system-based phecode groupings. An upward-pointing triangle indicates increased odds for a given phecode, downward-pointing triangle indicates reduced risk.