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: rs121908627
rs121908627 		0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886044514
rs886044514 		1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1279384333
rs1279384333 		9 36222876 missense variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1384689025
rs1384689025 		9 36217577 missense variant C/T snv 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018