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 | 32217062 | stop gained | G/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 11 | 1994 | 2015 | ||||||||
|
1.000 | 0.040 | X | 31206663 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1998 | 2010 | ||||||||
|
1.000 | 0.040 | X | 31627852 | stop gained | G/A;C | snv | 5.7E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2004 | 2015 | |||||||
|
1.000 | 0.040 | X | 32389644 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 1995 | 2017 | ||||||||
|
1.000 | 0.040 | X | 31323597 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2014 | ||||||||
|
1.000 | 0.040 | X | 32362826 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2013 | ||||||||
|
1.000 | 0.040 | X | 32809559 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2001 | 2011 | ||||||||
|
1.000 | 0.040 | X | 31223046 | splice donor variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
1.000 | 0.040 | X | 31169542 | frameshift variant | A/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1992 | 2004 | ||||||||
|
1.000 | 0.040 | X | 32614302 | splice donor variant | C/A;G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||||||
|
1.000 | 0.040 | X | 32823297 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32390175 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2011 | ||||||||
|
1.000 | 0.040 | X | 31323615 | frameshift variant | TTTG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2005 | 2011 | ||||||||
|
1.000 | 0.040 | X | 31180483 | splice acceptor variant | T/G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||||||
|
1.000 | 0.040 | X | 32454659 | splice region variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
1.000 | 0.040 | X | 32345978 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1992 | 2010 | ||||||||
|
1.000 | 0.040 | X | 31444621 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1992 | 2013 | ||||||||
|
1.000 | 0.040 | X | 32849727 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||||||
|
1.000 | 0.040 | X | 32472163 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||||||
|
1.000 | 0.040 | X | 31348619 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2005 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32346041 | frameshift variant | TT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32448639 | splice acceptor variant | C/G | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||||||
|
1.000 | 0.040 | X | 31261663 | non coding transcript exon variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2004 | 2013 | ||||||||
|
1.000 | 0.040 | X | 32342171 | stop gained | G/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1997 | 2017 | ||||||||
|
1.000 | 0.040 | X | 32816642 | splice acceptor variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2004 | 2014 |