rs63750588, 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 0.925 0.080 14 73173687 missense variant T/A snv 0.700 1.000 20 1995 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.925 0.080 14 73173687 missense variant T/A snv 0.010 1.000 1 2004 2004
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.925 0.080 14 73173687 missense variant T/A snv 0.010 1.000 1 2004 2004