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: rs863224977
rs863224977 		1.000 0.040 X 31169492 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs863224998
rs863224998 		1.000 0.040 X 32386378 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs863225002
rs863225002 		1.000 0.040 X 32346068 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2002 2002
dbSNP: rs128625226
rs128625226 		1.000 0.040 X 32454796 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626239
rs128626239 		1.000 0.040 X 32699195 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1557320151
rs1557320151 		1.000 0.040 X 32386366 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1569563678
rs1569563678 		1.000 0.040 X 32463513 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs267606770
rs267606770 		1.000 0.040 X 32501821 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs797045526
rs797045526 		1.000 0.040 X 31965029 intron variant C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs886044455
rs886044455 		1.000 0.040 X 32348510 stop gained C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: 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: rs128626253
rs128626253 		1.000 0.040 X 31774100 stop gained C/A;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: 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: rs398123909
rs398123909 		0.882 0.160 X 32472310 splice acceptor variant C/A;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2006 2013
dbSNP: rs863224981
rs863224981 		1.000 0.040 X 32614397 stop gained C/A;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs128625227
rs128625227 		1.000 0.040 X 32484931 stop gained C/A;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: rs868688877
rs868688877 		1.000 0.040 X 31478268 stop gained C/A;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1569526579
rs1569526579 		0.925 0.160 X 32809612 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 2014
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: rs863224982
rs863224982 		1.000 0.040 X 32595877 splice acceptor variant C/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 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: 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