SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
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: rs121908491
rs121908491
1.000 0.040 7 94618833 missense variant A/C snv
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia
Nervous System Diseases 0.800 1.000 11 2001 2011