| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.080 | 0.875 | 8 | 2008 | 2016 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.060 | 1.000 | 6 | 2012 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.060 | 1.000 | 6 | 2012 | 2019 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.060 | 1.000 | 6 | 2012 | 2019 | |||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.060 | 0.833 | 6 | 2007 | 2019 | |||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 19 | 45351661 | stop gained | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
5 | 179705693 | missense variant | G/C | snv | 8.2E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
0.882 | 0.080 | 11 | 102955629 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 39954534 | upstream gene variant | C/A | snv | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 16 | 55479556 | missense variant | A/G;T | snv | 4.1E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
17 | 1456106 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
14 | 64236875 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |