rs63751210, 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 0.882 0.080 14 73186878 missense variant C/T snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 1998 1998
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 2001 2001
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 2001 2001
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 2001 2001