rs63750301, PSEN1

N. diseases: 6
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 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 1.000 20 1995 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.040 1.000 4 2002 2014
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Primary Progressive Aphasia (disorder)
11 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Dementia
CUI: C0497327
Disease: Dementia
176 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0