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: 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: 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: rs794727272
rs794727272 		1.000 0.040 X 33020154 missense variant A/C;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1569533965
rs1569533965 		1.000 0.040 X 32849772 frameshift variant -/C delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs128626231
rs128626231 		1.000 0.040 X 32849753 missense variant A/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: rs1557084067
rs1557084067 		1.000 0.040 X 32849727 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2006 2014
dbSNP: rs128626234
rs128626234 		1.000 0.040 X 32844794 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs863224989
rs863224989 		1.000 0.040 X 32823389 splice acceptor variant T/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
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: rs863224991
rs863224991 		1.000 0.040 X 32823369 frameshift variant -/A delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
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: rs863224996
rs863224996 		1.000 0.040 X 32816642 splice acceptor variant T/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2004 2014
dbSNP: rs1569528138
rs1569528138 		1.000 0.040 X 32816621 frameshift variant T/- delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626235
rs128626235 		0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 1994 2013
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: 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: 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: rs1569469298
rs1569469298 		1.000 0.040 X 32699239 frameshift variant -/GATGT delins
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626238
rs128626238 		1.000 0.040 X 32699219 stop gained G/A;C snv 5.5E-06
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: rs128627255
rs128627255 		1.000 0.040 X 32697995 missense variant T/C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs149106712
rs149106712 		1.000 0.040 X 32697912 stop gained A/G;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
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: 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