rs63751235, PSEN1

N. diseases: 6
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 0.807 0.120 14 73198117 missense variant C/G snv 0.800 1.000 4 2010 2014
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2001 2001
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2001 2001
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2001 2001
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2000 2000
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2001 2001