| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 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 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.986 | 69 | 2002 | 2020 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.040 | 0.750 | 4 | 2010 | 2017 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.020 | 1.000 | 2 | 1998 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 29943448 | missense variant | A/C;G;T | snv | 4.1E-06; 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
16 | 87403057 | missense variant | A/C;G;T | snv | 4.5E-06; 1.3E-03; 9.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.200 | 19 | 40850474 | intron variant | A/C;G;T | snv | 0.10; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 |
|
0.060 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.040 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||||
|
0.925 | 0.200 | 17 | 7675999 | missense variant | A/C;T | snv | 8.0E-06 |
|
0.020 | 0.500 | 2 | 2006 | 2014 | ||||||||
|
14 | 100846756 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
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 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |