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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.976 | 41 | 2002 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 1.000 | 24 | 2002 | 2018 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.060 | 0.833 | 6 | 2009 | 2017 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.060 | 0.667 | 6 | 2008 | 2018 | |||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.060 | 1.000 | 6 | 2004 | 2019 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.050 | 0.400 | 5 | 1996 | 2014 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.040 | 0.750 | 4 | 2012 | 2016 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.040 | 0.250 | 4 | 2012 | 2019 | |||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 |
|
0.040 | 0.750 | 4 | 2009 | 2015 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.030 | 0.667 | 3 | 2012 | 2015 | ||||||||
|
0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 |
|
0.030 | 0.333 | 3 | 2013 | 2015 | |||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.030 | 0.333 | 3 | 2005 | 2014 | ||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2013 | |||||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.030 | 0.667 | 3 | 2013 | 2015 | ||||||||
|
0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | ||||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2020 | |||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.020 | 0.500 | 2 | 2010 | 2014 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2002 | 2006 |