SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Ataxia ×
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: 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: 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: 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