Disease: MYOPATHY, TUBULAR AGGREGATE, 2 ×
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: rs587777528
rs587777528 		0.851 0.320 12 121641471 missense variant C/T snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.800 1.000 2 2014 2017
dbSNP: rs786204796
rs786204796 		1.000 12 121627039 missense variant G/A;C snv 4.2E-06
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.800 1.000 2 2014 2017
dbSNP: rs1555322610
rs1555322610 		1.000 12 121627037 missense variant C/G snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.700 0
dbSNP: rs786204797
rs786204797 		1.000 12 121641149 missense variant C/T snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.700 0