rs63750001, PSEN1

N. diseases: 4
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 0.851 0.080 14 73219188 missense variant C/T snv 0.700 1.000 20 1995 2018
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.851 0.080 14 73219188 missense variant C/T snv 0.010 1.000 1 2016 2016
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.851 0.080 14 73219188 missense variant C/T snv 0.010 1.000 1 2010 2010