ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Hereditary Autosomal Dominant 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: rs119476046
rs119476046 		0.827 0.240 14 50613343 missense variant C/T snv
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003