| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.900 | 1.000 | 1 | 2010 | 2020 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2011 | |||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.820 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.900 | 1.000 | 9 | 2007 | 2020 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.830 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.750 | 1.000 | 1 | 2007 | 2018 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv |
|
0.840 | 1.000 | 5 | 2011 | 2018 | |||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.900 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.820 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.820 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.830 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | |||||||
|
0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 |
|
0.710 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.850 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2013 |