Fig. 1
From: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Large burden of rare nonsynonymous SNV in SLE-related genes in SLE patients. a Pie chart demonstrating burden of variants in two SLE cohorts, SLE1 and SLE2, and 97 elderly healthy controls (HC). The numbering 0–4 indicates the number of rare variants found in a list of 76 GWAS SLE genes. b Number of SLE GWAS risk alleles in individual SLE patients with indicated number of rare variants (mean and SD, Kruskal–Wallis test). c The most frequently mutated genes in SLE cohort of 113 probands, shown as the number of total SLE patients and healthy controls (proportion of subjects) with variants in each individual gene
