rs63750418, PSEN1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.882 0.120 14 73186877 missense variant T/C snv 0.700 1.000 20 1995 2018
Argyrophilic grain disease
CUI: C0338460
Disease: Argyrophilic grain disease
7 0.882 0.120 14 73186877 missense variant T/C snv 0.010 1.000 1 2013 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.882 0.120 14 73186877 missense variant T/C snv 0.010 1.000 1 2013 2013