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.
Progressive inability to walk
CUI: C1836843
Disease: Progressive inability to walk
3 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Progressive spasticity
CUI: C1859520
Disease: Progressive spasticity
5 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Saccadic smooth pursuit
CUI: C1836479
Disease: Saccadic smooth pursuit
5 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
CUI: C4015782
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
1 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 0
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
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
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