rs63749806, 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 0.080 14 73186902 missense variant T/C snv 0.700 0
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1 2019 2019
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014