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: rs774277300
rs774277300
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0