| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.727 | 22 | 2006 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.100 | 0.818 | 11 | 2006 | 2019 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 0.889 | 9 | 2006 | 2013 | ||||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.070 | 0.714 | 7 | 2006 | 2019 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.070 | 0.714 | 7 | 2006 | 2018 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 0.800 | 5 | 2006 | 2016 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.040 | 0.750 | 4 | 2006 | 2014 | ||||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.040 | 0.750 | 4 | 2006 | 2011 | ||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.030 | 1.000 | 3 | 2006 | 2014 | |||||||
|
0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 |
|
0.030 | 1.000 | 3 | 2006 | 2016 | |||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.030 | 1.000 | 3 | 2006 | 2008 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.030 | 1.000 | 3 | 2006 | 2017 | |||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.030 | 1.000 | 3 | 2006 | 2008 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2009 | |||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2016 | |||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 0.500 | 2 | 2006 | 2014 | ||||||||
|
0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 |
|
0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 8 | 33498547 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.120 | 11 | 108267276 | missense variant | T/C | snv | 8.7E-03 | 8.5E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |