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: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs398123832
rs398123832
DMD
3 0.882 0.160 X 31178721 stop gained G/A snv 0.700 1.000 9 1996 2017
dbSNP: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 1.000 8 1992 2015
dbSNP: rs128627256
rs128627256
DMD
3 0.882 0.160 X 31478330 stop gained G/A snv 0.700 1.000 6 1995 2015
dbSNP: rs398122853
rs398122853
DMD
3 0.882 0.160 X 33211304 stop gained C/T snv 0.700 1.000 6 2003 2017
dbSNP: rs373286166
rs373286166
DMD
3 0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 5 2007 2016
dbSNP: rs398123929
rs398123929
DMD
3 0.882 0.160 X 32468509 stop gained G/A snv 0.700 1.000 4 2001 2011
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: 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: rs398123935
rs398123935
DMD
3 0.882 0.160 X 32463576 stop gained G/A snv 0.700 1.000 2 2015 2017
dbSNP: rs104894790
rs104894790
DMD
2 0.925 0.160 X 31178751 stop gained G/A snv 0.700 1.000 8 1993 2009
dbSNP: rs398123973
rs398123973
DMD
2 0.925 0.160 X 32365049 stop gained G/A;T snv 5.5E-06 0.700 1.000 6 2001 2011
dbSNP: rs1556789913
rs1556789913
DMD
2 0.925 0.160 X 31657989 splice donor variant C/T snv 0.700 1.000 5 2006 2017
dbSNP: rs398123923
rs398123923
DMD
2 0.925 0.160 X 33211281 splice donor variant C/A;G snv 0.700 1.000 5 2002 2017
dbSNP: rs398124074
rs398124074
DMD
2 0.925 0.160 X 31479043 stop gained G/A snv 0.700 1.000 5 2006 2011
dbSNP: rs5030730
rs5030730
DMD
2 0.925 0.160 X 32438372 stop gained G/A snv 0.700 1.000 5 2000 2017
dbSNP: rs886043989
rs886043989
DMD
2 0.925 0.160 X 31209497 splice donor variant C/T snv 0.700 1.000 5 1993 2014
dbSNP: rs128626235
rs128626235
DMD
2 0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06 0.700 1.000 4 1994 2013
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: rs1569559849
rs1569559849
DMD
2 0.925 0.160 X 32364712 splice acceptor variant T/C snv 0.700 1.000 2 2006 2014
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 2 2005 2009
dbSNP: rs587776747
rs587776747
DMD
2 0.925 0.160 X 31261301 non coding transcript exon variant T/C snv 0.700 1.000 2 2003 2010
dbSNP: rs863224999
rs863224999
DMD
2 0.925 0.160 X 32380626 stop gained G/A snv 0.700 1.000 2 2010 2013
dbSNP: rs1569528101
rs1569528101
DMD
2 0.925 0.160 X 32816514 inframe deletion GTG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863224986
rs863224986
DMD
2 0.925 0.160 X 32491492 stop gained G/A;T snv 0.700 1.000 1 2002 2002