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 | 31147274 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | X | 31169492 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | X | 31169542 | frameshift variant | A/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1992 | 2004 | ||||||||
|
1.000 | 0.040 | X | 31169584 | stop gained | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | X | 31178668 | splice donor variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1997 | 1999 | ||||||||
|
0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1996 | 2017 | ||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1993 | 2009 | ||||||||
|
1.000 | 0.040 | X | 31178759 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2001 | 2009 | ||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1992 | 2015 | ||||||||
|
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 | 31182770 | stop gained | -/TTAC | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 31206663 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1998 | 2010 | ||||||||
|
0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 1993 | 2014 | ||||||||
|
1.000 | 0.040 | X | 31209509 | frameshift variant | -/T | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
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 | 31223071 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | X | 31261301 | non coding transcript exon variant | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
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 | 31323597 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2006 | 2014 | ||||||||
|
1.000 | 0.040 | X | 31323615 | frameshift variant | TTTG/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2005 | 2011 | ||||||||
|
0.925 | 0.160 | X | 31323625 | stop gained | G/A;T | snv | 1.1E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
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 | 31444524 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | X | 31444594 | frameshift variant | CT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 |