rs63750526, PSEN1

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.776 0.160 14 73192832 missense variant C/A snv 0.800 1.000 25 1995 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.776 0.160 14 73192832 missense variant C/A snv 0.070 1.000 7 2000 2014
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2010 2010
Herpes Simplex Infections
CUI: C0019348
Disease: Herpes Simplex Infections
11 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 1998 1998
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2011 2011
Obesity
CUI: C0028754
Disease: Obesity
1111 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2011 2011