SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile ×
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: 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: 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: 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: 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: 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: 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: 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