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 1.000 1 2016 2016
dbSNP: rs1060502615
rs1060502615
DMD
1 1.000 0.040 X 32454659 splice region variant T/A snv 0.700 1.000 3 2006 2011
dbSNP: rs863224988
rs863224988
DMD
1 1.000 0.040 X 32485102 splice region variant G/A;C snv 5.5E-06 0.700 1.000 1 2009 2009
dbSNP: rs886044502
rs886044502
DMD
1 1.000 0.040 X 31180483 splice acceptor variant T/G snv 0.700 1.000 4 2006 2016
dbSNP: rs1569526579
rs1569526579
DMD
2 0.925 0.160 X 32809612 splice acceptor variant C/G snv 0.700 1.000 3 2006 2014
dbSNP: rs1569562952
rs1569562952
DMD
1 1.000 0.040 X 32448639 splice acceptor variant C/G snv 0.700 1.000 3 2006 2016
dbSNP: rs863224996
rs863224996
DMD
1 1.000 0.040 X 32816642 splice acceptor variant T/C snv 0.700 1.000 3 2004 2014
dbSNP: rs1569559849
rs1569559849
DMD
2 0.925 0.160 X 32364712 splice acceptor variant T/C snv 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 2 2006 2013
dbSNP: rs794727357
rs794727357
DMD
1 1.000 0.040 X 32472311 splice acceptor variant T/A;G snv 0.700 1.000 1 2004 2004
dbSNP: rs863224978
rs863224978
DMD
1 1.000 0.040 X 32644315 splice acceptor variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs863224982
rs863224982
DMD
1 1.000 0.040 X 32595877 splice acceptor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs863224989
rs863224989
DMD
1 1.000 0.040 X 32823389 splice acceptor variant T/C snv 0.700 1.000 1 2006 2006
dbSNP: rs863224994
rs863224994
DMD
1 1.000 0.040 X 32454831 splice acceptor variant CTTCCAC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1556962571
rs1556962571
DMD
1 1.000 0.040 X 31875368 splice acceptor variant GGAAACCTGAAAGGAAA/- del 0.700 0
dbSNP: rs398123839
rs398123839
DMD
1 1.000 0.040 X 31169542 frameshift variant A/- del 0.700 1.000 4 1992 2004
dbSNP: rs863225015
rs863225015
DMD
1 1.000 0.040 X 31323615 frameshift variant TTTG/- delins 0.700 1.000 4 2005 2011
dbSNP: rs1569559106
rs1569559106
DMD
1 1.000 0.040 X 32346041 frameshift variant TT/- delins 0.700 1.000 3 2007 2017
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 2 2005 2009
dbSNP: rs863224975
rs863224975
DMD
1 1.000 0.040 X 31178759 frameshift variant T/- delins 0.700 1.000 2 2001 2009
dbSNP: rs863224990
rs863224990
DMD
1 1.000 0.040 X 32823372 frameshift variant T/- del 0.700 1.000 2 2002 2010
dbSNP: rs863225000
rs863225000
DMD
1 1.000 0.040 X 32365127 frameshift variant T/- delins 0.700 1.000 2 1999 2004
dbSNP: rs1556641290
rs1556641290
DMD
1 1.000 0.040 X 31444524 frameshift variant -/G delins 0.700 1.000 1 2006 2006
dbSNP: rs1557292678
rs1557292678
DMD
1 1.000 0.040 X 32345977 frameshift variant GTTTT/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1569533965
rs1569533965
DMD
1 1.000 0.040 X 32849772 frameshift variant -/C delins 0.700 1.000 1 2011 2011