Disease: MYOPATHY, CENTRONUCLEAR, 5 ×
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: rs587777676
rs587777676 		1.000 2 219489174 missense variant G/T snv
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.800 1.000 1 2014 2014
dbSNP: rs587777672
rs587777672 		1.000 2 219484160 stop gained C/A;G;T snv 1.6E-05; 1.6E-05
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777673
rs587777673 		1.000 2 219473732 stop gained C/G;T snv
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777674
rs587777674 		1.000 2 219469371 splice donor variant ACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG/- delins
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0
dbSNP: rs587777675
rs587777675 		1.000 2 219467207 frameshift variant CC/A delins
CUI: C4014814
Disease: MYOPATHY, CENTRONUCLEAR, 5
MYOPATHY, CENTRONUCLEAR, 5 		0.700 0