Disease: Myopathy ×
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: rs104894294
rs104894294 		1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0