Disease: Shoulder girdle muscle atrophy ×
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: rs1565930588
rs1565930588 		0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		0.700 1.000 3 2016 2018