Gene: DMD ×
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: rs1557292678
rs1557292678
DMD
1 1.000 0.040 X 32345977 frameshift variant GTTTT/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1569533965
rs1569533965
DMD
1 1.000 0.040 X 32849772 frameshift variant -/C delins 0.700 1.000 1 2011 2011
dbSNP: rs1569562936
rs1569562936
DMD
1 1.000 0.040 X 32448500 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs398123997
rs398123997
DMD
1 1.000 0.040 X 32342249 stop gained C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs398124050
rs398124050
DMD
1 1.000 0.040 X 31729634 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs398124072
rs398124072
DMD
1 1.000 0.040 X 31496892 stop gained G/A snv 0.700 1.000 1 1995 1995
dbSNP: rs398124078
rs398124078
DMD
1 1.000 0.040 X 31478130 frameshift variant AG/- delins 0.700 1.000 1 2011 2011
dbSNP: rs398124092
rs398124092
DMD
1 1.000 0.040 X 31223071 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs756949497
rs756949497
DMD
1 1.000 0.040 X 32484925 stop gained G/A;T snv 1.1E-05 0.700 1.000 1 2008 2008
dbSNP: rs762394978
rs762394978
DMD
1 1.000 0.040 X 31679492 stop gained C/G;T snv 0.700 1.000 1 2006 2006
dbSNP: rs762860653
rs762860653
DMD
1 1.000 0.040 X 32501767 stop gained G/A;C snv 3.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs794727272
rs794727272
DMD
1 1.000 0.040 X 33020154 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs794727357
rs794727357
DMD
1 1.000 0.040 X 32472311 splice acceptor variant T/A;G snv 0.700 1.000 1 2004 2004
dbSNP: rs863224976
rs863224976
DMD
1 1.000 0.040 X 31169584 stop gained A/C snv 0.700 1.000 1 2005 2005
dbSNP: rs863224977
rs863224977
DMD
1 1.000 0.040 X 31169492 stop gained C/A snv 0.700 1.000 1 2005 2005
dbSNP: rs863224978
rs863224978
DMD
1 1.000 0.040 X 32644315 splice acceptor variant T/- del 0.700 1.000 1 2012 2012
dbSNP: rs863224980
rs863224980
DMD
1 1.000 0.040 X 32644131 splice donor variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs863224981
rs863224981
DMD
1 1.000 0.040 X 32614397 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs863224982
rs863224982
DMD
1 1.000 0.040 X 32595877 splice acceptor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs863224983
rs863224983
DMD
1 1.000 0.040 X 32573786 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs863224984
rs863224984
DMD
1 1.000 0.040 X 32573766 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs863224987
rs863224987
DMD
1 1.000 0.040 X 32491288 stop gained T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs863224988
rs863224988
DMD
1 1.000 0.040 X 32485102 splice region variant G/A;C snv 5.5E-06 0.700 1.000 1 2009 2009
dbSNP: rs863224989
rs863224989
DMD
1 1.000 0.040 X 32823389 splice acceptor variant T/C snv 0.700 1.000 1 2006 2006
dbSNP: rs863224991
rs863224991
DMD
1 1.000 0.040 X 32823369 frameshift variant -/A delins 0.700 1.000 1 2009 2009