MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
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: rs1057516031
rs1057516031 		1.000 0.080 X 150598681 stop gained G/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016