rs63750522, 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 73173644 missense variant G/A;C snv 0.700 1.000 20 1995 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.827 0.120 14 73173644 missense variant G/A;C snv 0.020 1.000 2 2010 2018
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
16 0.827 0.120 14 73173644 missense variant G/A;C 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 73173644 missense variant G/A;C snv 0.010 1 2019 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2000 2000