rs63750634, PSEN1

N. diseases: 3
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.
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003