KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: Spastic paraplegia 10, 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: rs121434443
rs121434443 		0.925 0.120 12 57569263 missense variant A/G snv
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2002 2011