Disease: Myopathy
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8