DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Dmd-Associated Dilated Cardiomyopathy ×
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: rs1057522454
rs1057522454 		1.000 0.040 X 32645107 stop gained C/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2011 2017
dbSNP: rs1060502629
rs1060502629 		1.000 0.040 X 32573796 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2006 2009
dbSNP: rs1060502639
rs1060502639 		1.000 0.040 X 32485057 stop gained G/A;C;T snv 5.5E-06; 1.1E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs128626233
rs128626233 		1.000 0.040 X 32849736 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 1994 2013
dbSNP: rs1569230406
rs1569230406 		1.000 0.040 X 32573830 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2005 2009
dbSNP: rs1569559822
rs1569559822 		1.000 0.040 X 32364580 splice donor variant A/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2006 2014
dbSNP: rs1569562941
rs1569562941 		1.000 0.040 X 32448563 stop gained G/A;C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2001 2009
dbSNP: rs398123834
rs398123834 		1.000 0.040 X 31178668 splice donor variant C/G;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 1997 1999
dbSNP: rs398123865
rs398123865 		1.000 0.040 X 32573834 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2004 2011
dbSNP: rs398123937
rs398123937 		1.000 0.040 X 32463438 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2006 2009
dbSNP: rs748769566
rs748769566 		1.000 0.040 X 32389536 stop gained G/A;C;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2009 2011
dbSNP: rs777864641
rs777864641 		1.000 0.040 X 32348504 stop gained C/A;G;T snv 5.6E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2008 2010
dbSNP: rs863224975
rs863224975 		1.000 0.040 X 31178759 frameshift variant T/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2001 2009
dbSNP: rs863224979
rs863224979 		1.000 0.040 X 32644139 stop gained G/A;C snv 5.6E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2001 2010
dbSNP: rs863224985
rs863224985 		1.000 0.040 X 32518085 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2013 2017
dbSNP: rs863224990
rs863224990 		1.000 0.040 X 32823372 frameshift variant T/- del
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2002 2010
dbSNP: rs863225000
rs863225000 		1.000 0.040 X 32365127 frameshift variant T/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 1999 2004
dbSNP: rs863225005
rs863225005 		1.000 0.040 X 32342105 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2005 2009
dbSNP: rs863225008
rs863225008 		1.000 0.040 X 31836813 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2007 2009
dbSNP: rs863225010
rs863225010 		1.000 0.040 X 31657988 splice donor variant A/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2009 2009
dbSNP: rs1060502626
rs1060502626 		1.000 0.040 X 31147274 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1060502661
rs1060502661 		1.000 0.040 X 32545250 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs128626246
rs128626246 		1.000 0.040 X 32464674 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1556641290
rs1556641290 		1.000 0.040 X 31444524 frameshift variant -/G delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1557218131
rs1557218131 		1.000 0.040 X 32216946 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2016 2016