rs63750311, 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 0.240 14 73192647 missense variant A/C snv 0.700 1.000 20 1995 2018
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.790 0.240 14 73192647 missense variant A/C snv 0.020 1.000 2 2000 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
Cerebral Amyloid Angiopathy
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
22 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
Combined D-2- and L-2-hydroxyglutaric aciduria
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
14 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2006 2006
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
L-2-HYDROXYGLUTARIC ACIDURIA
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
16 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2006 2006
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002