| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 8 | 128546982 | intron variant | C/T | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2015 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.020 | 1.000 | 2 | 2001 | 2019 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.742 | 0.240 | 3 | 138946321 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 19 | 50850699 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 2007 | 2015 | ||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
0.882 | 0.120 | 6 | 32518660 | missense variant | T/A;C | snv | 4.2E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.020 | 1.000 | 2 | 2016 | 2018 |