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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1992 | 2015 | ||||||||
|
0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||||||
|
0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2017 | ||||||||
|
0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||
|
0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2001 | 2011 | ||||||||
|
0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1993 | 2009 | ||||||||
|
0.925 | 0.160 | X | 32365049 | stop gained | G/A;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2011 | |||||||
|
0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2002 | 2017 | ||||||||
|
0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2011 | ||||||||
|
0.925 | 0.160 | X | 32438372 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||||||
|
0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 1993 | 2014 | ||||||||
|
0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1994 | 2013 | |||||||
|
0.925 | 0.160 | X | 32809612 | splice acceptor variant | C/G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||||||
|
0.925 | 0.160 | X | 32364712 | splice acceptor variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
0.925 | 0.160 | X | 31875300 | frameshift variant | T/-;TT | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.925 | 0.160 | X | 31261301 | non coding transcript exon variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
0.925 | 0.160 | X | 32380626 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.160 | X | 32816514 | inframe deletion | GTG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | X | 32491492 | stop gained | G/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 |