Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 10 | 49482848 | missense variant | G/A | snv | 8.0E-06 |
|
0.800 | 1.000 | 5 | 1998 | 2017 | ||||||||
|
1.000 | 0.160 | 10 | 49474074 | missense variant | A/G;T | snv |
|
0.800 | 1.000 | 5 | 1998 | 2017 | |||||||||
|
1.000 | 0.160 | 10 | 49482798 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 5 | 1998 | 2017 | ||||||||
|
1.000 | 0.160 | 10 | 49471085 | missense variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 10 | 49530769 | frameshift variant | CTGCTGG/- | del |
|
0.700 | 1.000 | 7 | 1992 | 2016 | ||||||||||
|
1.000 | 10 | 49530769 | frameshift variant | CTGCTGG/- | del |
|
0.700 | 1.000 | 7 | 1992 | 2016 | ||||||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 7 | 1992 | 2016 | |||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 7 | 1992 | 2016 | |||||||
|
0.851 | 0.160 | 10 | 49482848 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 7 | 1992 | 2016 | ||||||||
|
0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 7 | 1992 | 2016 | |||||||
|
0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv |
|
0.700 | 1.000 | 5 | 1998 | 2017 | |||||||||
|
0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2011 | |||||||||
|
0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2011 | |||||||||
|
0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2011 | |||||||||
|
0.925 | 0.400 | 10 | 49482689 | stop gained | G/A | snv | 6.4E-05 | 9.1E-05 |
|
0.700 | 1.000 | 3 | 2010 | 2016 | |||||||
|
0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2010 | ||||||||
|
0.925 | 0.400 | 10 | 49482809 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.851 | 0.400 | 10 | 49528426 | stop gained | C/A | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.851 | 0.400 | 10 | 49528426 | stop gained | C/A | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 |