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: rs128626250
rs128626250
DMD
1 1.000 0.040 X 32217062 stop gained G/A;C snv 0.700 1.000 11 1994 2015
dbSNP: rs104894797
rs104894797
DMD
1 1.000 0.040 X 31206663 stop gained G/A snv 0.700 1.000 9 1998 2010
dbSNP: rs863225011
rs863225011
DMD
1 1.000 0.040 X 31627852 stop gained G/A;C snv 5.7E-06 0.700 1.000 8 2004 2015
dbSNP: rs398123953
rs398123953
DMD
1 1.000 0.040 X 32389644 stop gained G/A snv 0.700 1.000 6 1995 2017
dbSNP: rs1569526122
rs1569526122
DMD
1 1.000 0.040 X 31323597 splice donor variant C/T snv 0.700 1.000 5 2006 2014
dbSNP: rs398123981
rs398123981
DMD
1 1.000 0.040 X 32362826 stop gained G/A snv 0.700 1.000 5 2006 2013
dbSNP: rs398123999
rs398123999
DMD
1 1.000 0.040 X 32809559 stop gained G/A snv 0.700 1.000 5 2001 2011
dbSNP: rs398124094
rs398124094
DMD
1 1.000 0.040 X 31223046 splice donor variant C/G;T snv 0.700 1.000 5 2006 2017
dbSNP: rs398123839
rs398123839
DMD
1 1.000 0.040 X 31169542 frameshift variant A/- del 0.700 1.000 4 1992 2004
dbSNP: rs398123862
rs398123862
DMD
1 1.000 0.040 X 32614302 splice donor variant C/A;G snv 0.700 1.000 4 2006 2016
dbSNP: rs863224995
rs863224995
DMD
1 1.000 0.040 X 32823297 stop gained G/A snv 0.700 1.000 4 2003 2011
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: 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: rs863224996
rs863224996
DMD
1 1.000 0.040 X 32816642 splice acceptor variant T/C snv 0.700 1.000 3 2004 2014