SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
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: rs29001665
rs29001665 		1.000 0.080 9 132331293 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 10 2004 2014
dbSNP: rs29001584
rs29001584 		0.925 0.120 9 132330432 missense variant A/G snv
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 8 2004 2013
dbSNP: rs121434378
rs121434378 		1.000 0.080 9 132283403 missense variant C/T snv
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 5 2004 2013
dbSNP: rs121434379
rs121434379 		1.000 0.080 9 132296909 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2013
dbSNP: rs28940290
rs28940290 		1.000 0.080 9 132281483 missense variant G/A snv 4.0E-06
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 9 2004 2013
dbSNP: rs28941475
rs28941475 		1.000 0.080 9 132349421 missense variant G/A snv
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 2004 2013
dbSNP: rs997473183
rs997473183 		1.000 0.080 9 132334624 missense variant C/D;T snv
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2004 2013
dbSNP: rs1420833435
rs1420833435 		1.000 0.080 9 132271806 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2004 2013
dbSNP: rs267607044
rs267607044 		1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2004 2013
dbSNP: rs762175796
rs762175796 		1.000 0.080 9 132326331 missense variant A/G snv 8.1E-06
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2004 2013
dbSNP: rs29001584
rs29001584 		0.925 0.120 9 132330432 missense variant A/G snv
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2004 2013
dbSNP: rs151117904
rs151117904 		1.000 0.080 9 132264633 missense variant A/G snv 3.9E-03 4.2E-03
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2004 2013
dbSNP: rs121434376
rs121434376 		1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2004 2009
dbSNP: rs1554820931
rs1554820931 		9 132328198 frameshift variant -/T delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2004 2009
dbSNP: rs1554822175
rs1554822175 		9 132331387 frameshift variant A/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2004 2009
dbSNP: rs587776537
rs587776537 		1.000 0.080 9 132346304 inframe deletion AGA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2004 2009
dbSNP: rs776632212
rs776632212 		0.925 0.120 9 132326334 frameshift variant G/- del
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2004 2009
dbSNP: rs776632212
rs776632212 		0.925 0.120 9 132326334 frameshift variant G/- del
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2004 2009
dbSNP: rs398124286
rs398124286 		0.925 0.120 9 132277144 splice acceptor variant CTGT/-;CTGTCTGT delins 3.5E-05
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2009 2014
dbSNP: rs398124286
rs398124286 		0.925 0.120 9 132277144 splice acceptor variant CTGT/-;CTGTCTGT delins 3.5E-05
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2009 2014
dbSNP: rs116205032
rs116205032 		1.000 0.080 9 132329791 missense variant T/C snv 1.0E-03 4.8E-03
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs116333061
rs116333061 		1.000 0.080 9 132329641 missense variant G/T snv 1.5E-03 6.4E-03
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs797045067
rs797045067 		1.000 0.080 9 132297006 frameshift variant ATTGCTTTCT/- delins
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs797045068
rs797045068 		1.000 0.080 9 132295940 missense variant A/C snv
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253866
rs879253866 		1.000 0.080 9 132288238 stop gained G/A snv
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015