SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Myoclonic dystonia ×
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: rs863223285
rs863223285 		1.000 0.040 7 94618800 frameshift variant CT/- del
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		Nervous System Diseases 0.700 0