| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 43339292 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 15495419 | missense variant | G/A | snv | 8.5E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 43340027 | missense variant | T/C | snv | 3.4E-04 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 1496134 | missense variant | T/G | snv | 6.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 9 | 4983311 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 10 | 113726306 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 5015732 | intron variant | C/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 3 | 184372642 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 1 | 43349298 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 111418869 | missense variant | C/T | snv | 2.7E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 12 | 111447663 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |