rs63750687, PSEN1

N. diseases: 33
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.
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.800 1.000 24 1995 2018
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
Dementia
CUI: C0497327
Disease: Dementia
176 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010