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: 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