| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.100 | 0.895 | 19 | 2000 | 2015 | ||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.100 | 1.000 | 15 | 1999 | 2019 | |||||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 1.000 | 10 | 1999 | 2019 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.060 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.050 | 0.600 | 5 | 2003 | 2017 | ||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.820 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
4 | 186277851 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2012 | |||||||||
|
1.000 | 0.080 | 1 | 169511985 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2012 | ||||||||
|
0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2007 | ||||||||
|
1 | 169454860 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169327626 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 46739326 | missense variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2003 | 2013 | |||||||||
|
8 | 105578478 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 |
|
0.020 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 |
|
0.710 | 1.000 | 2 | 2006 | 2011 |