| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.727 | 11 | 2004 | 2016 | |||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 8 | 125255388 | intron variant | T/G | snv | 0.48 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 15 | 51243944 | intron variant | T/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 121284700 | regulatory region variant | T/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 17 | 47391492 | stop gained | T/G | snv | 4.4E-02 | 4.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 3 | 50331675 | missense variant | T/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 4 | 68672015 | upstream gene variant | T/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.280 | 1 | 155309691 | non coding transcript exon variant | T/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 16 | 74054192 | non coding transcript exon variant | T/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.240 | 4 | 122448621 | downstream gene variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 4 | 68647129 | missense variant | T/G | snv | 0.55 | 0.49 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 5 | 21567711 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 19 | 50859281 | intron variant | T/G | snv | 4.9E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |