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[Preprint]. 2024 Nov 23:2024.11.22.624040. [Version 1] doi: 10.1101/2024.11.22.624040

Table 2.

Phenotype counts of all non-locally-restricted samples from GP2’s 7th data release with visually-confirmed deletions in genes of interest. Proportions of the total population are included in parentheses per diagnosis. “VaPD” stands for Vascular Parkinsonism.

Visually-Confirmed Deletions
Diagnosis Total Population PRKN LINGO2 APP
PD 23,089 236 (1.0%) 162 (0.7%) 7 (0.03%)
Control 13,366 91 (0.7%) 119 (0.9%) 5 (0.03%)
Population Control 5,458 25 (0.5%) 35 (0.6%) 0
PSP 760 7 (0.9%) 2 (0.3%) 0
Other 382 2 (0.5%) 2 (0.5%) 0
DLB 296 1 (0.3%) 2 (0.7%) 0
Mix 252 1 (0.4%) 6 (2.4%) 0
MSA 243 4 (1.6%) 0 0
Prodromal 120 0 1 (0.8%) 0
AD 114 1 (0.9%) 0 0
LBD 75 0 0 0
Undetermined-MCI 71 1 (1.4%) 0 0
Undetermined-Dementia 27 0 0 0
CBD/CBS 23 0 0 0
FTD 3 0 0 0
VaPD 1 0 0 0
Total 44,280 369 329 12