Fig. 1: Coding genetic associations with disease.
From: Genetic associations of protein-coding variants in human disease
a, Summary of sentinel variant associations. Size of the point is proportional to effect size. −log10(P) capped at −log10(10−50). Labels highlight pleiotropic associations (≥5 trait clusters). Colours indicate disease groups. Shapes indicate novel and known (grey circles) associations. Dotted horizontal lines indicate –log10(2 × 10−9) (brown) and −log10(5 × 10−8) (grey). b, Comparison of sentinel variant MAF between UKB and FG data. c, Effect size against MAF of sentinel variants. Dashed lines indicate MAF of 0.1% (left) and 1% (right). Genes for coding variant associations with absolute effect size greater than 2 or MAF less than 0.1% are labelled. d, Surface plot of effects of cohort specific allele enrichment on inverse variant weighted (IVW) meta-analysis z-scores (IVW uplift) across MAFs (up to MAF 1%). Uplift is defined as the ratio of meta-analysed IVW z-score to the z-score of an individual study (details in Supplementary Information). e, Density plot of MAF for sentinel variants for known versus novel associations. Interactive Manhattan plot for novel associations and allelic enrichment surface plots are provided as Supplementary Files 1, 2.
