Skip to main content
. 2022 Feb 9;18(12):2458–2467. doi: 10.1002/alz.12567

TABLE 1.

Frequency of pathogenic GRN mutations with CADD score ≥ 20 in the different cohorts

Dataset Number of variants Frequency in affected Frequency in unaffected
gnomAD exomes (all populations) 127 NA 0.0075
EFIGA families 22 0.0512 0.0473
ROSMAP 8 0.014 0.0082
NACC 30 0.0052 0.0052

Abbreviations: CADD, Combined Annotation Dependent Depletion; gnomAD, Genome Aggregation Database; EFIGA, Estudio Familiar de Influencia Genetica en Alzheimer's; ROSMAP, Religious Orders Study and Memory and Aging Project; NACC, National Alzheimer's Coordinating Center.