ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
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: rs119476046
rs119476046 		0.827 0.240 14 50613343 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864622269
rs864622269 		0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2005 2005