| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.860 | 1.000 | 6 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 |
|
0.820 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 |
|
0.820 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 105756594 | intergenic variant | T/C | snv | 7.7E-02 |
|
0.810 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.810 | 1.000 | 1 | 2011 | 2017 | |||||||
|
1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 |
|
0.810 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv |
|
0.810 | 0.667 | 1 | 2008 | 2017 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.979 | 454 | 2002 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.800 | 0.981 | 452 | 2002 | 2020 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.800 | 1.000 | 34 | 2002 | 2020 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.800 | 1.000 | 15 | 2005 | 2019 | |||||||||
|
0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 |
|
0.800 | 0.938 | 15 | 2001 | 2019 | ||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 8 | 1989 | 2016 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.760 | 1.000 | 6 | 1995 | 2016 | |||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.750 | 1.000 | 5 | 1995 | 2015 | ||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 5 | 1989 | 2018 | |||||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.750 | 0.833 | 5 | 2008 | 2017 | ||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.740 | 0.600 | 4 | 2003 | 2014 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 4 | 1989 | 2016 | ||||||||
|
0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv |
|
0.740 | 1.000 | 4 | 1989 | 2018 | |||||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.730 | 1.000 | 3 | 2008 | 2014 |