Disease: Muscular Dystrophy, Duchenne
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs104894787
DMD
0.882 0.160 X 31178784 stop gained G/A snv 3
rs128627256
DMD
0.882 0.160 X 31478330 stop gained G/A snv 3
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05 3
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv 3
rs398123832
DMD
0.882 0.160 X 31178721 stop gained G/A snv 3
rs398123909
DMD
0.882 0.160 X 32472310 splice acceptor variant C/A;T snv 3
rs398123929
DMD
0.882 0.160 X 32468509 stop gained G/A snv 3
rs398123935
DMD
0.882 0.160 X 32463576 stop gained G/A snv 3
rs794726993
DMD
0.882 0.160 X 32645020 stop gained G/A;C snv 3
rs1556880354
DMD
0.925 0.120 X 31774193 splice acceptor variant C/T snv 2
rs1557047827
DMD
0.925 0.120 X 32809512 frameshift variant C/- del 2
rs1557380616
DMD
0.925 0.120 X 32485053 stop gained A/T snv 2
rs182575709
DMD
0.925 0.120 X 32461403 intron variant T/C;G snv 5.7E-03 2
rs398124105
DMD
0.925 0.120 X 31182849 frameshift variant CATCCAGTCT/- delins 2
rs779739455
DMD
0.925 0.120 X 31968451 splice acceptor variant C/A;G snv 5.5E-06 2
rs886042840
DMD
0.925 0.120 X 31178789 inframe deletion TCT/- delins 2
rs886043375
DMD
0.925 0.120 X 31169543 frameshift variant G/-;GG delins 2