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: 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: rs104894790
rs104894790
DMD
2 0.925 0.160 X 31178751 stop gained G/A snv 0.700 1.000 8 1993 2009
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: rs398123953
rs398123953
DMD
1 1.000 0.040 X 32389644 stop gained G/A snv 0.700 1.000 6 1995 2017
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: rs1569526122
rs1569526122
DMD
1 1.000 0.040 X 31323597 splice donor variant C/T snv 0.700 1.000 5 2006 2014
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: 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: rs398124074
rs398124074
DMD
2 0.925 0.160 X 31479043 stop gained G/A snv 0.700 1.000 5 2006 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: 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: 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: rs398123929
rs398123929
DMD
3 0.882 0.160 X 32468509 stop gained G/A snv 0.700 1.000 4 2001 2011
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