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: rs128625229
rs128625229 		1.000 0.040 X 31444621 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 1992 2013
dbSNP: rs398124078
rs398124078 		1.000 0.040 X 31478130 frameshift variant AG/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
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: rs128627256
rs128627256 		0.882 0.160 X 31478330 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 1995 2015
dbSNP: rs1569546174
rs1569546174 		1.000 0.040 X 31478996 stop gained G/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs398124074
rs398124074 		0.925 0.160 X 31479043 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2006 2011
dbSNP: rs398124072
rs398124072 		1.000 0.040 X 31496892 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 1995 1995
dbSNP: rs863225013
rs863225013 		1.000 0.040 X 31507279 splice donor variant A/G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs863225012
rs863225012 		1.000 0.040 X 31507314 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1556764934
rs1556764934 		1.000 0.040 X 31627820 frameshift variant ATCTA/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: 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: 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: rs863225009
rs863225009 		1.000 0.040 X 31679430 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs762394978
rs762394978 		1.000 0.040 X 31679492 stop gained C/G;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs398124051
rs398124051 		1.000 0.040 X 31679575 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: 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: rs1569451994
rs1569451994 		1.000 0.040 X 31820032 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1569452000
rs1569452000 		1.000 0.040 X 31820037 stop gained A/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: rs1060502659
rs1060502659 		1.000 0.040 X 31875217 frameshift variant GT/- del
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs398124040
rs398124040 		0.925 0.160 X 31875300 frameshift variant T/-;TT delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2005 2009
dbSNP: rs128625230
rs128625230 		1.000 0.040 X 31875331 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1556962571
rs1556962571 		1.000 0.040 X 31875368 splice acceptor variant GGAAACCTGAAAGGAAA/- del
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0