| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv |
|
0.060 | 1.000 | 6 | 2014 | 2017 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.060 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 2013 | 2019 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.060 | 1.000 | 6 | 2006 | 2015 | ||||||||
|
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 | ||||||||
|
0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv |
|
0.060 | 1.000 | 6 | 2017 | 2018 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.050 | 0.800 | 5 | 2010 | 2018 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.050 | 0.800 | 5 | 1993 | 2019 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2008 | 2017 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.050 | 1.000 | 5 | 2012 | 2020 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.050 | 0.800 | 5 | 2013 | 2015 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.050 | 1.000 | 5 | 2001 | 2010 | |||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.050 | 0.800 | 5 | 2016 | 2019 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.050 | 1.000 | 5 | 2007 | 2017 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.040 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.040 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv |
|
0.040 | 0.750 | 4 | 2016 | 2019 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.040 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.776 | 0.120 | 11 | 125637491 | missense variant | T/C | snv | 8.1E-06 |
|
0.040 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.040 | 0.750 | 4 | 2010 | 2017 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.040 | 0.750 | 4 | 2014 | 2019 |