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: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.010 1.000 1 2010 2010
dbSNP: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.010 1.000 1 2010 2010
dbSNP: rs63750009
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2010 2010