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: 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: 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: 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: rs587776536
rs587776536 		1.000 0.080 9 132328627 frameshift variant CCTTT/- 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 0
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: rs587776537
rs587776537 		1.000 0.080 9 132346304 inframe deletion AGA/- 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 0
dbSNP: rs61742937
rs61742937 		1.000 0.080 9 132328623 missense variant T/C snv 1.5E-02 1.4E-02
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882209
rs730882209 		0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs745933371
rs745933371 		1.000 0.080 9 132328245 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs746525639
rs746525639 		1.000 0.080 9 132295893 missense variant T/C snv 2.0E-05 2.8E-05
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750959420
rs750959420 		1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 3.5E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs750959420
rs750959420 		1.000 0.080 9 132311820 frameshift variant CTCT/-;CT delins 4.0E-06; 2.4E-05 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 0
dbSNP: rs753713810
rs753713810 		1.000 0.080 9 132334626 missense variant T/C snv 3.2E-05 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 0.700 0
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: rs770684782
rs770684782 		9 132288268 stop gained G/A snv 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs770684782
rs770684782 		9 132288268 stop gained G/A snv 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs770684782
rs770684782 		9 132288268 stop gained G/A snv 4.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs773379832
rs773379832 		0.925 0.320 9 132297011 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs773379832
rs773379832 		0.925 0.320 9 132297011 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013