rs63750599, PSEN1

N. diseases: 7
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 0.160 14 73170963 missense variant T/C snv 0.700 1.000 20 1995 2018
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
2 0.827 0.160 14 73170963 missense variant T/C snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2004 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2019 2019
Limb apraxia
CUI: C4022574
Disease: Limb apraxia
1 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2019 2019
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2019 2019
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2004 2004