ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
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: rs119476046
rs119476046 		0.827 0.240 14 50613343 missense variant C/T snv
CUI: C3150972
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 		0.700 1.000 8 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: rs119476050
rs119476050 		1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 3 2007 2013
dbSNP: rs864622269
rs864622269 		0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 3 2007 2013
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: rs1032466
rs1032466 		1.000 0.120 14 50607743 intron variant A/C snv 0.27
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
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: rs17122693
rs17122693 		14 50617517 intron variant T/A;C snv
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		0.700 1.000 1 2010 2010
dbSNP: rs2356455
rs2356455 		14 50626424 intron variant G/A snv 0.48
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2934679
rs2934679 		14 50627027 intron variant T/C snv 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3015455
rs3015455 		14 50595444 intron variant G/A snv 0.79
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4901043
rs4901043 		1.000 0.080 14 50616876 intron variant T/C snv 0.49
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
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: 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