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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv |
|
0.820 | 0.833 | 4 | 2012 | 2019 | |||||||||
|
0.776 | 0.200 | 5 | 56144903 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.776 | 0.320 | 7 | 128940626 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 |
|
0.820 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 |
|
0.810 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 58197909 | missense variant | G/A;C | snv | 4.8E-02; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.807 | 0.160 | 10 | 62020112 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 9 | 34743684 | intron variant | G/A | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.440 | 10 | 6348488 | intron variant | G/A | snv | 0.79 |
|
0.800 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.827 | 0.200 | 18 | 12797695 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 |
|
0.870 | 0.909 | 2 | 2007 | 2015 | ||||||||
|
0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 191057148 | intron variant | C/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.240 | 7 | 129007888 | intron variant | C/T | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |