Gene: DMD ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886043989
rs886043989
DMD
2 0.925 0.160 X 31209497 splice donor variant C/T snv 0.700 0
dbSNP: rs886043375
rs886043375
DMD
2 0.925 0.120 X 31169543 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs886043041
rs886043041
DMD
1 1.000 0.120 X 32343133 splice donor variant C/A snv 9.5E-06 0.700 0
dbSNP: rs886042840
rs886042840
DMD
2 0.925 0.120 X 31178789 inframe deletion TCT/- delins 0.700 0
dbSNP: rs886042747
rs886042747
DMD
1 1.000 0.120 X 32364596 stop gained C/A snv 0.700 0
dbSNP: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 0.700 0
dbSNP: rs886041344
rs886041344
DMD
1 1.000 0.120 X 32565829 stop gained G/C;T snv 0.700 0
dbSNP: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
dbSNP: rs878854621
rs878854621
DMD
1 1.000 0.120 X 31679466 frameshift variant T/- del 0.700 0
dbSNP: rs878854619
rs878854619
DMD
1 1.000 0.120 X 32573638 splice acceptor variant C/A snv 0.700 0
dbSNP: rs878854618
rs878854618
DMD
1 1.000 0.120 X 32595855 stop gained G/A;C;T snv 5.5E-06 0.700 0
dbSNP: rs878854366
rs878854366
DMD
1 1.000 0.120 X 31169486 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863225007
rs863225007
DMD
2 0.925 0.160 X 31968341 frameshift variant -/T delins 0.700 0
dbSNP: rs863224999
rs863224999
DMD
2 0.925 0.160 X 32380626 stop gained G/A snv 0.700 0
dbSNP: rs863224986
rs863224986
DMD
2 0.925 0.160 X 32491492 stop gained G/A;T snv 0.700 0
dbSNP: rs796523999
rs796523999
DMD
1 1.000 0.120 X 32454659 splice donor variant -/A delins 0.700 0
dbSNP: rs794727661
rs794727661
DMD
1 1.000 0.120 X 32343176 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs794726993
rs794726993
DMD
3 0.882 0.160 X 32645020 stop gained G/A;C snv 0.700 1.000 3 2009 2017
dbSNP: rs779739455
rs779739455
DMD
2 0.925 0.120 X 31968451 splice acceptor variant C/A;G snv 5.5E-06 0.700 0
dbSNP: rs770845480
rs770845480
DMD
1 1.000 0.120 X 32346023 stop gained G/A;C snv 1.1E-05 0.700 0
dbSNP: rs765445866
rs765445866
DMD
1 1.000 0.120 X 32364626 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs762250680
rs762250680
DMD
1 1.000 0.120 X 32365175 stop gained G/A;C snv 1.1E-05 0.700 0
dbSNP: rs72470513
rs72470513
DMD
1 1.000 0.120 X 32698013 intron variant T/C snv 0.700 0
dbSNP: rs398124105
rs398124105
DMD
2 0.925 0.120 X 31182849 frameshift variant CATCCAGTCT/- delins 0.700 0
dbSNP: rs398124099
rs398124099
DMD
1 1.000 0.120 X 32650983 intron variant G/A snv 0.700 1.000 3 2004 2010