rs63751032, 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, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2007 2007
Dementia
CUI: C0497327
Disease: Dementia
176 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2007 2007
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2007 2007