rs63750646, 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 73217147 missense variant G/C snv 0.700 1.000 20 1995 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.807 0.120 14 73217147 missense variant G/C snv 0.020 1.000 2 1999 1999
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.807 0.120 14 73217147 missense variant G/C snv 0.010 1.000 1 1999 1999
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.120 14 73217147 missense variant G/C snv 0.010 1.000 1 1999 1999
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.120 14 73217147 missense variant G/C snv 0.010 1.000 1 1999 1999
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.120 14 73217147 missense variant G/C snv 0.010 1.000 1 1999 1999