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: rs863225007
rs863225007 		0.925 0.160 X 31968341 frameshift variant -/T delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs128626232
rs128626232 		0.925 0.160 X 32545310 stop gained G/A;C snv 1.1E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626241
rs128626241 		0.925 0.160 X 32595870 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626245
rs128626245 		0.925 0.160 X 32468539 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626248
rs128626248 		0.925 0.160 X 32389605 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626251
rs128626251 		0.925 0.160 X 32216981 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626254
rs128626254 		0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs146071084
rs146071084 		0.925 0.160 X 32454660 splice donor variant A/C;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs146880270
rs146880270 		0.925 0.160 X 32438312 stop gained C/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs201366610
rs201366610 		0.925 0.160 X 32501833 stop gained G/A;C snv 5.9E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626250
rs128626250 		1.000 0.040 X 32217062 stop gained G/A;C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1998 2010
dbSNP: rs863225011
rs863225011 		1.000 0.040 X 31627852 stop gained G/A;C snv 5.7E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 2004 2015
dbSNP: rs398123953
rs398123953 		1.000 0.040 X 32389644 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 1995 2017
dbSNP: rs1569526122
rs1569526122 		1.000 0.040 X 31323597 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2006 2014
dbSNP: rs398123981
rs398123981 		1.000 0.040 X 32362826 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2001 2011
dbSNP: rs398124094
rs398124094 		1.000 0.040 X 31223046 splice donor variant C/G;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2006 2017
dbSNP: rs398123839
rs398123839 		1.000 0.040 X 31169542 frameshift variant A/- del
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2006 2016
dbSNP: rs863224995
rs863224995 		1.000 0.040 X 32823297 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2003 2011
dbSNP: rs863224997
rs863224997 		1.000 0.040 X 32390175 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2003 2011
dbSNP: rs863225015
rs863225015 		1.000 0.040 X 31323615 frameshift variant TTTG/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2005 2011
dbSNP: rs886044502
rs886044502 		1.000 0.040 X 31180483 splice acceptor variant T/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2006 2016
dbSNP: rs1060502615
rs1060502615 		1.000 0.040 X 32454659 splice region variant T/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2006 2011