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: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.800 1.000 25 1995 2018
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 5 1995 2015
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.700 1.000 5 1995 2015
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.700 1.000 5 1995 2015
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.100 1.000 10 1997 2019
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 1.000 7 2000 2014
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2010 2010
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 1.000 1 2011 2011
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2011 2011
dbSNP: rs63750526
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 1.000 1 1998 1998