ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Spastic paraplegia 3, 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: rs864622269
rs864622269 		0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 19 2001 2014
dbSNP: rs28939094
rs28939094 		1.000 0.080 14 50628133 missense variant A/G;T snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 2001 2014
dbSNP: rs387906941
rs387906941 		1.000 0.080 14 50628157 missense variant C/T snv 8.0E-06
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 2001 2014
dbSNP: rs397514712
rs397514712 		1.000 0.080 14 50628155 missense variant G/A snv 4.0E-06
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 2001 2014
dbSNP: rs864622520
rs864622520 		1.000 0.080 14 50614406 missense variant G/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 2001 2014
dbSNP: rs119476050
rs119476050 		1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 12 2004 2015
dbSNP: rs119476046
rs119476046 		0.827 0.240 14 50613343 missense variant C/T snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 15 2001 2015
dbSNP: rs119476049
rs119476049 		1.000 0.080 14 50613278 missense variant G/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2002 2015
dbSNP: rs1566735903
rs1566735903 		1.000 0.080 14 50628420 frameshift variant G/- delins
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2002 2007
dbSNP: rs137852657
rs137852657 		1.000 0.080 14 50591584 missense variant C/T snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs119476047
rs119476047 		1.000 0.080 14 50614425 missense variant C/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119476048
rs119476048 		1.000 0.080 14 50614422 missense variant A/G snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119476051
rs119476051 		1.000 0.080 14 50591587 missense variant T/G snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555364149
rs1555364149 		1.000 0.080 14 50593859 missense variant C/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555364247
rs1555364247 		1.000 0.080 14 50595596 missense variant A/C snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs606231265
rs606231265 		1.000 0.080 14 50591011 missense variant G/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs863223314
rs863223314 		1.000 0.080 14 50628428 frameshift variant -/A delins
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs864622083
rs864622083 		1.000 0.080 14 50628104 missense variant C/A snv
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0