Fig. 1: ExWAS.
From: Rare variant associations with plasma protein levels in the UK Biobank
a, Summary of significant (P ≤ 1 × 10−8) cis- and trans-pQTLs across the exome, limited to variants with MAF ≤ 0.1%. P values were generated via linear regression. If multiple variants in a gene were associated with the same protein, we displayed the most significant association for ease of visualization. The P values were not corrected for multiple testing; the study-wide significance threshold is P ≤ 1 × 10−8. b, Percentage of significant rare (MAF ≤ 0.1%) and common (MAF > 0.1%) ExWAS genotype–protein associations that were also significant in the UKB-PPP GWAS. c, The proportion of significant cis-CDS pQTLs per variant class across three MAF bins. ‘All tested variants’ refers to the total number of variants occurring in the genes corresponding to the proteins measured via the Olink platform that were included in the ExWAS. d, Effect sizes of significant rare pQTLs in each variant class. For all plots, if the same genotype–protein association was detected in multiple ExWAS models, we retained the association with the smallest P value.
