| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.040 | 0.750 | 4 | 2017 | 2018 | |||||||||
|
0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 |
|
0.840 | 0.833 | 4 | 2012 | 2019 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||
|
0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 |
|
0.830 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |