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: rs63750004
rs63750004
PSEN1
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.700 1.000 20 1995 2018
dbSNP: rs63750004
rs63750004
PSEN1
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 1999 2010
dbSNP: rs63750004
rs63750004
PSEN1
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C0497327
Disease: Dementia
Dementia 		0.010 1.000 1 2017 2017
dbSNP: rs63750004
rs63750004
PSEN1
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2017 2017