rs1057518874, SPG11

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.
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 15 44598738 missense variant C/A snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 15 44598738 missense variant C/A snv 0.700 0
Generalized hyperreflexia
CUI: C4024949
Disease: Generalized hyperreflexia
3 15 44598738 missense variant C/A snv 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 15 44598738 missense variant C/A snv 0.700 0