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: rs398123832
rs398123832 		0.882 0.160 X 31178721 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1996 2017
dbSNP: rs398122853
rs398122853 		0.882 0.160 X 33211304 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
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
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 1995 2017
dbSNP: rs1556789913
rs1556789913 		0.925 0.160 X 31657989 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 2017
dbSNP: rs398123923
rs398123923 		0.925 0.160 X 33211281 splice donor variant C/A;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2002 2017
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: rs5030730
rs5030730 		0.925 0.160 X 32438372 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2000 2017
dbSNP: rs1569530432
rs1569530432 		1.000 0.040 X 31348619 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2005 2017
dbSNP: rs1569559106
rs1569559106 		1.000 0.040 X 32346041 frameshift variant TT/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2007 2017
dbSNP: rs773643220
rs773643220 		1.000 0.040 X 32342171 stop gained G/A;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 1997 2017
dbSNP: rs794726993
rs794726993 		0.882 0.160 X 32645020 stop gained G/A;C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2009 2017
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: rs398123935
rs398123935 		0.882 0.160 X 32463576 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2015 2017
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: 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: rs398124050
rs398124050 		1.000 0.040 X 31729634 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs373286166
rs373286166 		0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2007 2016
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: 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: rs1569562952
rs1569562952 		1.000 0.040 X 32448639 splice acceptor variant C/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2006 2016
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
dbSNP: rs1569528101
rs1569528101 		0.925 0.160 X 32816514 inframe deletion GTG/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
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: rs104894787
rs104894787 		0.882 0.160 X 31178784 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1992 2015
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