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: rs28930069
rs28930069
0.882 0.200 1 201053539 missense variant G/A;C snv
CUI: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007