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: rs587777528
rs587777528
0.851 0.320 12 121641471 missense variant C/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014