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: rs398123839
rs398123839
DMD
1 1.000 0.040 X 31169542 frameshift variant A/- del 0.700 1.000 4 1992 2004
dbSNP: rs863224990
rs863224990
DMD
1 1.000 0.040 X 32823372 frameshift variant T/- del 0.700 1.000 2 2002 2010
dbSNP: rs863224978
rs863224978
DMD
1 1.000 0.040 X 32644315 splice acceptor variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs1060502659
rs1060502659
DMD
1 1.000 0.040 X 31875217 frameshift variant GT/- del 0.700 0
dbSNP: rs1556962571
rs1556962571
DMD
1 1.000 0.040 X 31875368 splice acceptor variant GGAAACCTGAAAGGAAA/- del 0.700 0
dbSNP: rs1557322834
rs1557322834
DMD
1 1.000 0.040 X 32390120 frameshift variant T/- del 0.700 0
dbSNP: rs1569273905
rs1569273905
DMD
1 1.000 0.040 X 32595782 frameshift variant G/- del 0.700 0
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: 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: rs1569528101
rs1569528101
DMD
2 0.925 0.160 X 32816514 inframe deletion GTG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1569533965
rs1569533965
DMD
1 1.000 0.040 X 32849772 frameshift variant -/C delins 0.700 1.000 1 2011 2011
dbSNP: rs398124078
rs398124078
DMD
1 1.000 0.040 X 31478130 frameshift variant AG/- delins 0.700 1.000 1 2011 2011
dbSNP: rs863224991
rs863224991
DMD
1 1.000 0.040 X 32823369 frameshift variant -/A delins 0.700 1.000 1 2009 2009
dbSNP: rs863224994
rs863224994
DMD
1 1.000 0.040 X 32454831 splice acceptor variant CTTCCAC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs863225003
rs863225003
DMD
1 1.000 0.040 X 32343268 frameshift variant CTTT/- delins 0.700 1.000 1 2007 2007
dbSNP: rs863225006
rs863225006
DMD
1 1.000 0.040 X 32287688 frameshift variant ATCT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs863225007
rs863225007
DMD
2 0.925 0.160 X 31968341 frameshift variant -/T delins 0.700 1.000 1 2009 2009
dbSNP: rs863225014
rs863225014
DMD
1 1.000 0.040 X 31444594 frameshift variant CT/- delins 0.700 1.000 1 2009 2009
dbSNP: rs863225017
rs863225017
DMD
1 1.000 0.040 X 31209509 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs863225018
rs863225018
DMD
1 1.000 0.040 X 31182770 stop gained -/TTAC delins 0.700 1.000 1 2009 2009