SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
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: rs2280967
rs2280967 		2 32064677 intron variant T/C;G snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs56272862
rs56272862 		2 32154594 3 prime UTR variant A/G snv 4.4E-02
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.700 1.000 1 2019 2019
dbSNP: rs6747488
rs6747488 		2 32086215 intron variant C/T snv 0.42
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6760105
rs6760105 		2 32082317 intron variant A/G;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1057518873
rs1057518873 		2 32144990 missense variant C/G;T snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553315329
rs1553315329 		2 32116153 stop gained C/A;T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553315329
rs1553315329 		2 32116153 stop gained C/A;T snv
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		0.700 0
dbSNP: rs1553315329
rs1553315329 		2 32116153 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1999 2014
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2002 2018
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2002 2018
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121908513
rs121908513 		0.807 0.280 2 32116145 missense variant T/A snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2000 2012
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C0023882
Disease: Little's Disease
Little's Disease 		Nervous System Diseases 0.700 0
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		0.700 0
dbSNP: rs1060502227
rs1060502227 		0.851 0.120 2 32136593 missense variant C/G;T snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs878854991
rs878854991 		0.882 0.080 2 32141906 missense variant G/A snv
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 25 1999 2016
dbSNP: rs878854991
rs878854991 		0.882 0.080 2 32141906 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1999 2016
dbSNP: rs121908515
rs121908515 		0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.030 1.000 3 2004 2008
dbSNP: rs121908515
rs121908515 		0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908515
rs121908515 		0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009