rs1057516031, 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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
X-linked centronuclear myopathy
CUI: C0410203
Disease: X-linked centronuclear myopathy
140 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016