Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.710 1.000 3 2009 2017
dbSNP: rs267606771
rs267606771
DMD
1.000 0.120 X 32448611 stop gained C/A snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.710 1.000 1 1997 1997
dbSNP: rs128626250
rs128626250
DMD
1.000 0.040 X 32217062 stop gained G/A;C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 11 1994 2015
dbSNP: rs104894797
rs104894797
DMD
1.000 0.040 X 31206663 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 9 1998 2010
dbSNP: rs398123832
rs398123832
DMD
0.882 0.160 X 31178721 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 9 1996 2017
dbSNP: rs104894787
rs104894787
DMD
0.882 0.160 X 31178784 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 8 1992 2015
dbSNP: rs104894790
rs104894790
DMD
0.925 0.160 X 31178751 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 8 1993 2009
dbSNP: rs863225011
rs863225011
DMD
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 		0.700 1.000 8 2004 2015
dbSNP: rs398123942
rs398123942
DMD
1.000 0.120 X 32454685 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 7 2008 2018
dbSNP: rs128627256
rs128627256
DMD
0.882 0.160 X 31478330 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 6 1995 2015
dbSNP: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 6 2003 2017
dbSNP: rs398123953
rs398123953
DMD
1.000 0.040 X 32389644 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 6 1995 2017
dbSNP: rs398123973
rs398123973
DMD
0.925 0.160 X 32365049 stop gained G/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 6 2001 2011
dbSNP: rs1556503937
rs1556503937
DMD
1.000 0.120 X 31323639 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 5 1999 2017
dbSNP: rs1556789913
rs1556789913
DMD
0.925 0.160 X 31657989 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2006 2017
dbSNP: rs1556806356
rs1556806356
DMD
1.000 0.120 X 31679588 splice acceptor variant T/C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 5 2006 2015
dbSNP: rs1569526122
rs1569526122
DMD
1.000 0.040 X 31323597 splice donor variant C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2006 2014
dbSNP: rs373286166
rs373286166
DMD
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 		0.700 1.000 5 2007 2016
dbSNP: rs373286166
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.700 1.000 5 2007 2016
dbSNP: rs373286166
rs373286166
DMD
0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.700 1.000 5 2007 2016
dbSNP: rs398123923
rs398123923
DMD
0.925 0.160 X 33211281 splice donor variant C/A;G snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2002 2017
dbSNP: rs398123981
rs398123981
DMD
1.000 0.040 X 32362826 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2006 2013
dbSNP: rs398123999
rs398123999
DMD
1.000 0.040 X 32809559 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2001 2011
dbSNP: rs398124074
rs398124074
DMD
0.925 0.160 X 31479043 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2006 2011
dbSNP: rs398124094
rs398124094
DMD
1.000 0.040 X 31223046 splice donor variant C/G;T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.700 1.000 5 2006 2017