rs63750050, PSEN1

N. diseases: 5
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 0.925 0.080 14 73198106 missense variant T/G snv 0.700 1.000 20 1995 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 1998 1998
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010