rs63750577, PSEN1

N. diseases: 8
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 73186881 missense variant C/T snv 0.800 1.000 20 1995 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2007 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2005 2007
Delusions
CUI: C0011253
Disease: Delusions
15 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018