rs132630302, MTM1

N. diseases: 1
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 1.000 0.080 X 150641306 missense variant A/G snv 0.800 1.000 1 2012 2012