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: rs1569528101
rs1569528101
DMD
2 0.925 0.160 X 32816514 inframe deletion GTG/- delins 0.700 0
dbSNP: rs886042840
rs886042840
DMD
2 0.925 0.120 X 31178789 inframe deletion TCT/- delins 0.700 0
dbSNP: rs398123960
rs398123960
DMD
1 1.000 0.120 X 32389496 splice region variant C/A;G;T snv 0.700 0
dbSNP: rs1556806356
rs1556806356
DMD
1 1.000 0.120 X 31679588 splice acceptor variant T/C snv 0.700 1.000 5 2006 2015
dbSNP: rs1556040444
rs1556040444
DMD
1 1.000 0.120 X 31180482 splice acceptor variant C/T snv 0.700 1.000 4 2006 2017
dbSNP: rs1557374667
rs1557374667
DMD
1 1.000 0.120 X 32472310 splice acceptor variant C/- del 0.700 1.000 3 2006 2017
dbSNP: rs1556035817
rs1556035817
DMD
1 1.000 0.120 X 31177964 splice acceptor variant ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- delins 0.700 1.000 2 2006 2014
dbSNP: rs398123909
rs398123909
DMD
3 0.882 0.160 X 32472310 splice acceptor variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1060502619
rs1060502619
DMD
1 1.000 0.120 X 31496944 splice acceptor variant CC/TT mnv 0.700 0
dbSNP: rs1060502637
rs1060502637
DMD
1 1.000 0.120 X 32411914 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060502653
rs1060502653
DMD
1 1.000 0.120 X 31204113 splice acceptor variant TCTACAAAGG/- delins 0.700 0
dbSNP: rs1060502656
rs1060502656
DMD
1 1.000 0.120 X 32287702 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1556665303
rs1556665303
DMD
1 1.000 0.120 X 31496946 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1556880354
rs1556880354
DMD
2 0.925 0.120 X 31774193 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1557011973
rs1557011973
DMD
1 1.000 0.120 X 31932229 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1569526579
rs1569526579
DMD
2 0.925 0.160 X 32809612 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1569559849
rs1569559849
DMD
2 0.925 0.160 X 32364712 splice acceptor variant T/C snv 0.700 0
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: rs878854619
rs878854619
DMD
1 1.000 0.120 X 32573638 splice acceptor variant C/A snv 0.700 0
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 3 1990 2016
dbSNP: rs1557380685
rs1557380685
DMD
1 1.000 0.120 X 32485084 frameshift variant G/- del 0.700 1.000 2 2007 2011
dbSNP: rs1557304860
rs1557304860
DMD
1 1.000 0.120 X 32364597 frameshift variant T/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1557362198
rs1557362198
DMD
1 1.000 0.120 X 32448529 frameshift variant T/- delins 0.700 1.000 1 2006 2006
dbSNP: rs878854366
rs878854366
DMD
1 1.000 0.120 X 31169486 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518692
rs1057518692
DMD
1 1.000 0.120 X 32343221 frameshift variant C/- delins 0.700 0