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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1992 | 2015 | ||||||||
|
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 | 31206663 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1998 | 2010 | ||||||||
|
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 | 32454659 | splice region variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
1.000 | 0.040 | X | 31932180 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
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 | 32573796 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2006 | 2009 | ||||||||
|
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 | |||||||
|
1.000 | 0.040 | X | 31875217 | frameshift variant | GT/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
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 | 32454796 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32484931 | stop gained | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
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 | 31875331 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32849753 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32545310 | stop gained | G/A;C | snv | 1.1E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32849736 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1994 | 2013 | ||||||||
|
1.000 | 0.040 | X | 32844794 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1994 | 2013 | |||||||
|
1.000 | 0.040 | X | 32699219 | stop gained | G/A;C | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 32699195 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 32595870 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 32565742 | stop gained | C/G;T | snv | 5.5E-06 |
|
Cardiovascular Diseases | 0.700 | 0 |