rs63750852, PSEN1

N. diseases: 8
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 0.790 0.120 14 73170998 missense variant G/A;T snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2008 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2008 2008
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2012 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006