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: rs1060502626
rs1060502626
1.000 0.040 X 31147274 splice donor variant C/T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs863224977
rs863224977
1.000 0.040 X 31169492 stop gained C/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2005 2005
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: rs863224976
rs863224976
1.000 0.040 X 31169584 stop gained A/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs201217593
rs201217593
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs398123834
rs398123834
1.000 0.040 X 31178668 splice donor variant C/G;T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 2 1997 1999
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: 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: rs863224975
rs863224975
1.000 0.040 X 31178759 frameshift variant T/- delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 2 2001 2009
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: rs886044502
rs886044502
1.000 0.040 X 31180483 splice acceptor variant T/G snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 2006 2016
dbSNP: rs863225018
rs863225018
1.000 0.040 X 31182770 stop gained -/TTAC delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2009 2009
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: 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: rs863225017
rs863225017
1.000 0.040 X 31209509 frameshift variant -/T delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2004 2004
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: rs398124092
rs398124092
1.000 0.040 X 31223071 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs587776747
rs587776747
0.925 0.160 X 31261301 non coding transcript exon variant T/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 2 2003 2010
dbSNP: rs398124091
rs398124091
1.000 0.040 X 31261663 non coding transcript exon variant T/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 3 2004 2013
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: rs863225015
rs863225015
1.000 0.040 X 31323615 frameshift variant TTTG/- delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 4 2005 2011
dbSNP: rs128626254
rs128626254
0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs1569530432
rs1569530432
1.000 0.040 X 31348619 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 3 2005 2017
dbSNP: rs1556641290
rs1556641290
1.000 0.040 X 31444524 frameshift variant -/G delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs863225014
rs863225014
1.000 0.040 X 31444594 frameshift variant CT/- delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2009 2009