rs571825723, PSEN1

N. diseases: 4
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.
Dementia
CUI: C0497327
Disease: Dementia
176 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2010 2010
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015