Figure 2
From: Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon
Assessing genetic variation in human IFN signaling pathway components. (A) Amount of common missense variants (MVs) calculated per 100 nucleotides (nts) for the indicated human IFN signaling pathway genes as deposited to gnomAD (‘common’ defined as minor allele frequency (MAF) > 1%). The conserved genes ACTB and HDAC1, as well as the highly variable gene HLA-A, serve as reference controls. (B) Amount of rare missense variants (MVs) calculated per 100 nucleotides (nts) for the indicated human IFN signaling pathway genes as deposited to gnomAD (‘rare’ defined as MAF < 1%). The conserved genes ACTB and HDAC1, as well as the highly variable gene HLA-A, serve as reference controls. (C) Percentage of the mean allele frequency (AF) at which rare genetic alleles of the indicated genes are present in the gnomAD database (MAF < 1%). (D) The number of rare variants found in a homozygous manner as calculated per 100 nts for each of the indicated genes (MAF < 1%).
