rs121917808, 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 0.080 14 73219192 missense variant C/A snv 0.800 1.000 20 1995 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.882 0.080 14 73219192 missense variant C/A snv 0.010 1.000 1 1998 1998
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.882 0.080 14 73219192 missense variant C/A snv 0.010 1.000 1 2007 2007