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: rs112089123
rs112089123 		1.000 0.080 9 132326938 missense variant A/C snv 5.5E-03 3.0E-03
CUI: C1865409
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
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: 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: rs121434376
rs121434376 		1.000 0.080 9 132327511 stop gained G/A 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 0
dbSNP: rs121434377
rs121434377 		1.000 0.080 9 132328996 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 0
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: rs121434380
rs121434380 		1.000 0.080 9 132296907 missense variant G/A 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 0
dbSNP: rs121434381
rs121434381 		1.000 0.080 9 132331123 stop gained C/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 0
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: rs1471824334
rs1471824334 		1.000 0.080 9 132278226 missense variant A/G 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 0.700 0
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: 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: rs1564492117
rs1564492117 		1.000 0.080 9 132288344 frameshift variant CT/- 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: rs201795631
rs201795631 		0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201795631
rs201795631 		0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201795631
rs201795631 		0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
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: rs267607044
rs267607044 		1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs267607044
rs267607044 		1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2006 2006
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: 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