FIG 1.
Case-control allele frequency significance. SNP-based case-control significance is shown in negative log base 10 genome-wide analysis for (A) discovery- and (B) replication-inclusive CVID cohorts. (C) Subsequently, CVID cases with specific disease subphenotypes were compared with CVID cases without the subphenotype. The single-SNP tests are shown as single points. Multiple neighboring SNPs of similar significance boost confidence in the association, as shown in the strong peak on 6p22.1-p21.32 of the discovery case-control cohort. Conversely, the median significance P value is kept low by minimizing population stratification, which minimizes the genomic inflation factor.