Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 1 2003 2003
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.700 1.000 1 2003 2003
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C4015781
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES 		0.700 0
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2003 2003
dbSNP: rs63750886
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.010 1.000 1 2015 2015