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: rs4149056
rs4149056 		0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.790 1.000 9 2008 2019
dbSNP: rs4363657
rs4363657 		12 21215788 intron variant T/C snv 0.18
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs72661137
rs72661137 		12 21217249 missense variant T/G snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009