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: rs63750800
rs63750800
PSEN1
0.882 0.080 14 73173585 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 0
dbSNP: rs63750800
rs63750800
PSEN1
0.882 0.080 14 73173585 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2018 2018
dbSNP: rs63750800
rs63750800
PSEN1
0.882 0.080 14 73173585 missense variant G/A snv
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2018 2018