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.
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
Flexion contracture of finger
CUI: C1857304
Disease: Flexion contracture of finger
4 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Generalized hyperreflexia
CUI: C4024949
Disease: Generalized hyperreflexia
3 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
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
Bilateral wrist flexion contracture
CUI: C4022899
Disease: Bilateral wrist flexion contracture
1 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Flexion contracture-shoulder
CUI: C0409336
Disease: Flexion contracture-shoulder
1 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
Pontocerebellar atrophy
CUI: C1853766
Disease: Pontocerebellar atrophy
1 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