SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Spastic paraplegia 4, autosomal dominant ×
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: rs878854992
rs878854992 		1.000 0.080 2 32144995 missense variant G/A;C snv 4.0E-06
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1999 2014