rs63751106, 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 0.827 0.080 14 73173643 missense variant T/A;C snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2001 2001
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2012 2012
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2001 2001
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2001 2001