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: rs63750050
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750050
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 1998 1998
dbSNP: rs63750050
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2010 2010
dbSNP: rs63750050
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2010 2010
dbSNP: rs63750050
rs63750050
PSEN1
0.925 0.080 14 73198106 missense variant T/G snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 1.000 1 2010 2010