rs132630304, MTM1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
X-linked centronuclear myopathy
CUI: C0410203
Disease: X-linked centronuclear myopathy
140 0.882 0.080 X 150598660 missense variant C/G;T snv 0.810 1.000 2 2012 2013
Centronuclear myopathy
CUI: C0175709
Disease: Centronuclear myopathy
13 0.882 0.080 X 150598660 missense variant C/G;T snv 0.010 1.000 1 2012 2012
Congenital Structural Myopathy
CUI: C0752282
Disease: Congenital Structural Myopathy
1 0.882 0.080 X 150598660 missense variant C/G;T snv 0.010 1.000 1 2012 2012