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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | X | 32464674 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | X | 31729634 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32216946 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | X | 32816514 | inframe deletion | GTG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.040 | X | 33020154 | missense variant | A/C;G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | X | 32518085 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32644315 | splice acceptor variant | T/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | X | 32645107 | stop gained | C/A;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||||
|
1.000 | 0.040 | X | 32849772 | frameshift variant | -/C | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32448500 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 31478130 | frameshift variant | AG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32595877 | splice acceptor variant | C/G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32386378 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32364605 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32485057 | stop gained | G/A;C;T | snv | 5.5E-06; 1.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.925 | 0.160 | X | 32380626 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
1.000 | 0.040 | X | 31679430 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32389536 | stop gained | G/A;C;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||||
|
1.000 | 0.040 | X | 31657988 | splice donor variant | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 32545250 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 32345977 | frameshift variant | GTTTT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 32342249 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 31223071 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 |