DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs1060502620
rs1060502620
1.000 0.040 X 31932180 frameshift variant T/- delins
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs1060502659
rs1060502659
1.000 0.040 X 31875217 frameshift variant GT/- del
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128625226
rs128625226
1.000 0.040 X 32454796 stop gained C/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128625227
rs128625227
1.000 0.040 X 32484931 stop gained C/A;T snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128625230
rs128625230
1.000 0.040 X 31875331 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626231
rs128626231
1.000 0.040 X 32849753 missense variant A/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626232
rs128626232
0.925 0.160 X 32545310 stop gained G/A;C snv 1.1E-05
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626234
rs128626234
1.000 0.040 X 32844794 stop gained G/A snv
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
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626239
rs128626239
1.000 0.040 X 32699195 stop gained C/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626241
rs128626241
0.925 0.160 X 32595870 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626242
rs128626242
1.000 0.040 X 32565742 stop gained C/G;T snv 5.5E-06
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626243
rs128626243
1.000 0.040 X 32501827 stop gained T/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626244
rs128626244
1.000 0.040 X 32501818 missense variant T/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626245
rs128626245
0.925 0.160 X 32468539 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626247
rs128626247
1.000 0.040 X 32411772 stop gained G/A;C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626248
rs128626248
0.925 0.160 X 32389605 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626249
rs128626249
1.000 0.040 X 32342123 stop gained G/A snv 5.5E-06
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626251
rs128626251
0.925 0.160 X 32216981 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626252
rs128626252
1.000 0.040 X 31929718 stop gained G/A snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626253
rs128626253
1.000 0.040 X 31774100 stop gained C/A;G snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128626254
rs128626254
0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128627255
rs128627255
1.000 0.040 X 32697995 missense variant T/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs128627257
rs128627257
1.000 0.040 X 32310214 stop gained A/C snv
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs144732570
rs144732570
1.000 0.040 X 32468640 stop gained G/A;T snv 1.4E-04
Dmd-Associated Dilated Cardiomyopathy
Cardiovascular Diseases 0.700 0