Fig. 2.

Enrichment of likely pathogenic and synonymous variants in known ID genes. Enrichment of variants in 818 known ID genes (Methods) in NFID cases compared to genetically matched controls. Heterozygotes were counted only for those genes for which a dominant inheritance mode is reported. The number of carriers and total individuals are given on the left and in parenthesis the proportion of carriers. Circles indicate the odds ratio (OR) and lines indicate 95% confidence interval of the OR. The synonymous variant identification comparison was performed to assess if possible differences in the variant identification rate due to batch/capture differences were adequately controlled. PTV protein truncating variant, CADD Combined Annotation-Dependent Depletion pathogenicity score, pLI probability of loss of function intolerance. Source data are provided as a Source Data file