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: rs121908511
rs121908511 		1.000 0.080 2 32141905 missense variant C/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 0.800 1.000 31 1999 2016
dbSNP: rs1553317025
rs1553317025 		1.000 0.080 2 32128430 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 0.800 1.000 26 1999 2016
dbSNP: rs878854990
rs878854990 		1.000 0.080 2 32136933 missense variant C/A;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 0.800 1.000 26 1999 2014
dbSNP: rs121908518
rs121908518 		1.000 0.080 2 32145004 stop gained 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 0.800 1.000 25 1999 2016
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: rs864622162
rs864622162 		1.000 0.080 2 32141917 missense variant C/T snv 4.0E-06
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 24 1999 2016
dbSNP: rs864622179
rs864622179 		1.000 0.080 2 32144996 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 24 1999 2014
dbSNP: rs121908509
rs121908509 		1.000 0.080 2 32116199 missense variant C/G 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: rs121908510
rs121908510 		0.925 0.240 2 32136898 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 20 1999 2014
dbSNP: rs121908512
rs121908512 		1.000 0.080 2 32136877 missense variant A/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 0.800 1.000 20 1999 2014
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: rs121908514
rs121908514 		0.925 0.080 2 32127006 missense variant A/G 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: rs121908516
rs121908516 		1.000 0.080 2 32136964 missense variant A/C;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 0.800 1.000 20 1999 2014
dbSNP: rs1553318238
rs1553318238 		1.000 0.080 2 32136930 missense variant A/G 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: rs587777757
rs587777757 		0.925 0.080 2 32128450 missense variant A/G 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: rs863224923
rs863224923 		1.000 0.080 2 32145005 missense variant G/A snv 7.0E-06
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: rs878854992
rs878854992 		1.000 0.080 2 32144995 missense variant G/A;C snv 4.0E-06
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: rs1553317028
rs1553317028 		1.000 2 32128440 inframe deletion CTT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1999 2016
dbSNP: rs1553317028
rs1553317028 		1.000 2 32128440 inframe deletion CTT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1999 2016
dbSNP: rs797044850
rs797044850 		1.000 0.080 2 32127017 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 21 1999 2016
dbSNP: rs797044850
rs797044850 		1.000 0.080 2 32127017 missense variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 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: rs144594804
rs144594804 		1.000 0.080 2 32154380 missense variant A/C snv 3.8E-04 3.1E-04
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 20 1999 2014
dbSNP: rs1553316816
rs1553316816 		0.925 0.080 2 32126982 missense variant T/A;G 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 20 1999 2014
dbSNP: rs372005558
rs372005558 		1.000 0.080 2 32064120 missense variant C/A;T snv 5.9E-04; 5.0E-06
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 20 1999 2014