Figure 3.
Frequency of known pathogenic mutations and risk alleles in 1511 postmortem brains. (A) Number of brains with mutations in known familial neurodegenerative disease genes, and (B) the nature of pathogenic and likely pathogenic variants in each disease category. (C) Number of brains with a known genetic risk factor for neurodegenerative disease, and (D) known genetic risk factors in each subgroup (APOE*E4 alleles excluded but including rare coding variants). Variants which were significantly associated with each disease cohort are highlighted by an asterisk (P < 0.05, Fisher's exact test). All variant associations with disease can be seen in Supplemental Tables 7 and 8.
