SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Spastic Paraplegia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518880
rs1057518880 		1.000 0.080 2 32126966 frameshift variant G/- del
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060499939
rs1060499939 		0.882 0.120 2 32137172 missense variant G/C;T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553314978
rs1553314978 		0.925 0.120 2 32114826 splice donor variant G/A;T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0