MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
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: rs781933660
rs781933660 		1.000 0.080 X 150657977 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 18 1997 2015
dbSNP: rs132630304
rs132630304 		0.882 0.080 X 150598660 missense variant C/G;T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 2 2012 2013
dbSNP: rs587783772
rs587783772 		0.776 0.200 X 150659665 missense variant G/A;T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 17 1997 2013
dbSNP: rs587783754
rs587783754 		1.000 0.080 X 150657887 missense variant C/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783755
rs587783755 		1.000 0.080 X 150657899 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783759
rs587783759 		1.000 0.080 X 150657927 missense variant C/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783762
rs587783762 		1.000 0.080 X 150657972 missense variant G/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783764
rs587783764 		1.000 0.080 X 150658000 missense variant G/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783796
rs587783796 		1.000 0.080 X 150598600 missense variant G/A;T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783801
rs587783801 		1.000 0.080 X 150663460 missense variant T/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783809
rs587783809 		1.000 0.080 X 150598663 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783816
rs587783816 		1.000 0.080 X 150614617 missense variant T/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783832
rs587783832 		1.000 0.080 X 150641275 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783835
rs587783835 		1.000 0.080 X 150641290 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783836
rs587783836 		1.000 0.080 X 150641297 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783841
rs587783841 		1.000 0.080 X 150641354 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783848
rs587783848 		1.000 0.080 X 150641416 missense variant C/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783850
rs587783850 		1.000 0.080 X 150645683 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783851
rs587783851 		1.000 0.080 X 150645687 missense variant T/C snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs587783856
rs587783856 		1.000 0.080 X 150645795 missense variant T/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1997 2013
dbSNP: rs132630302
rs132630302 		1.000 0.080 X 150641306 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs132630303
rs132630303 		1.000 0.080 X 150657957 missense variant A/G snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs132630305
rs132630305 		1.000 0.080 X 150645725 missense variant C/T snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs132630307
rs132630307 		1.000 0.080 X 150638967 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs886044782
rs886044782 		1.000 0.080 X 150659694 missense variant G/A snv
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 1997 2013