DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs128626250
rs128626250
1.000 0.040 X 32217062 stop gained G/A;C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 11 1994 2015
dbSNP: rs104894797
rs104894797
1.000 0.040 X 31206663 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 9 1998 2010
dbSNP: rs398123832
rs398123832
0.882 0.160 X 31178721 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 9 1996 2017
dbSNP: rs104894787
rs104894787
0.882 0.160 X 31178784 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 8 1992 2015
dbSNP: rs104894790
rs104894790
0.925 0.160 X 31178751 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 8 1993 2009
dbSNP: rs863225011
rs863225011
1.000 0.040 X 31627852 stop gained G/A;C snv 5.7E-06
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 8 2004 2015
dbSNP: rs128627256
rs128627256
0.882 0.160 X 31478330 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 6 1995 2015
dbSNP: rs398122853
rs398122853
0.882 0.160 X 33211304 stop gained C/T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 6 2003 2017
dbSNP: rs398123953
rs398123953
1.000 0.040 X 32389644 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 6 1995 2017
dbSNP: rs398123973
rs398123973
0.925 0.160 X 32365049 stop gained G/A;T snv 5.5E-06
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 6 2001 2011
dbSNP: rs1556789913
rs1556789913
0.925 0.160 X 31657989 splice donor variant C/T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2006 2017
dbSNP: rs1569526122
rs1569526122
1.000 0.040 X 31323597 splice donor variant C/T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2006 2014
dbSNP: rs373286166
rs373286166
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2007 2016
dbSNP: rs398123923
rs398123923
0.925 0.160 X 33211281 splice donor variant C/A;G snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2002 2017
dbSNP: rs398123981
rs398123981
1.000 0.040 X 32362826 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2006 2013
dbSNP: rs398123999
rs398123999
1.000 0.040 X 32809559 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2001 2011
dbSNP: rs398124074
rs398124074
0.925 0.160 X 31479043 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2006 2011
dbSNP: rs398124094
rs398124094
1.000 0.040 X 31223046 splice donor variant C/G;T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2006 2017
dbSNP: rs5030730
rs5030730
0.925 0.160 X 32438372 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 2000 2017
dbSNP: rs886043989
rs886043989
0.925 0.160 X 31209497 splice donor variant C/T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 5 1993 2014
dbSNP: rs128626235
rs128626235
0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 1994 2013
dbSNP: rs398123839
rs398123839
1.000 0.040 X 31169542 frameshift variant A/- del
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 1992 2004
dbSNP: rs398123862
rs398123862
1.000 0.040 X 32614302 splice donor variant C/A;G snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 2006 2016
dbSNP: rs398123929
rs398123929
0.882 0.160 X 32468509 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 2001 2011
dbSNP: rs863224995
rs863224995
1.000 0.040 X 32823297 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 2003 2011