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: rs863224997
rs863224997
DMD
1 1.000 0.040 X 32390175 stop gained G/A snv 0.700 1.000 4 2003 2011
dbSNP: rs863225015
rs863225015
DMD
1 1.000 0.040 X 31323615 frameshift variant TTTG/- delins 0.700 1.000 4 2005 2011
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: rs1060502615
rs1060502615
DMD
1 1.000 0.040 X 32454659 splice region variant T/A snv 0.700 1.000 3 2006 2011
dbSNP: rs128625228
rs128625228
DMD
1 1.000 0.040 X 32345978 stop gained G/A snv 0.700 1.000 3 1992 2010
dbSNP: rs128625229
rs128625229
DMD
1 1.000 0.040 X 31444621 stop gained G/A snv 0.700 1.000 3 1992 2013
dbSNP: rs1557084067
rs1557084067
DMD
1 1.000 0.040 X 32849727 splice donor variant C/T snv 0.700 1.000 3 2006 2014
dbSNP: rs1557374482
rs1557374482
DMD
1 1.000 0.040 X 32472163 splice donor variant C/T snv 0.700 1.000 3 2006 2014
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: rs1569530432
rs1569530432
DMD
1 1.000 0.040 X 31348619 stop gained G/A snv 0.700 1.000 3 2005 2017
dbSNP: rs1569559106
rs1569559106
DMD
1 1.000 0.040 X 32346041 frameshift variant TT/- delins 0.700 1.000 3 2007 2017
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: rs398124091
rs398124091
DMD
1 1.000 0.040 X 31261663 non coding transcript exon variant T/C snv 0.700 1.000 3 2004 2013
dbSNP: rs773643220
rs773643220
DMD
1 1.000 0.040 X 32342171 stop gained G/A;T snv 0.700 1.000 3 1997 2017
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: rs863224996
rs863224996
DMD
1 1.000 0.040 X 32816642 splice acceptor variant T/C snv 0.700 1.000 3 2004 2014
dbSNP: rs1057522454
rs1057522454
DMD
1 1.000 0.040 X 32645107 stop gained C/A;T snv 5.5E-06 0.700 1.000 2 2011 2017
dbSNP: rs1060502629
rs1060502629
DMD
1 1.000 0.040 X 32573796 stop gained C/T snv 0.700 1.000 2 2006 2009
dbSNP: rs1060502639
rs1060502639
DMD
1 1.000 0.040 X 32485057 stop gained G/A;C;T snv 5.5E-06; 1.1E-05 0.700 1.000 2 2010 2011
dbSNP: rs128626233
rs128626233
DMD
1 1.000 0.040 X 32849736 stop gained G/A snv 0.700 1.000 2 1994 2013
dbSNP: rs1569230406
rs1569230406
DMD
1 1.000 0.040 X 32573830 stop gained C/T snv 0.700 1.000 2 2005 2009
dbSNP: rs1569559822
rs1569559822
DMD
1 1.000 0.040 X 32364580 splice donor variant A/G snv 0.700 1.000 2 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: rs1569562941
rs1569562941
DMD
1 1.000 0.040 X 32448563 stop gained G/A;C snv 0.700 1.000 2 2001 2009
dbSNP: rs398123834
rs398123834
DMD
1 1.000 0.040 X 31178668 splice donor variant C/G;T snv 0.700 1.000 2 1997 1999