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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 13 | 28308924 | synonymous variant | G/A | snv | 0.80 | 0.67 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 1.000 | 4 | 2006 | 2016 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2010 | 2011 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.925 | 0.120 | 3 | 14148768 | intron variant | G/A;C;T | snv | 0.41; 1.5E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 7 | 45893070 | missense variant | A/G | snv | 0.36 | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 14167125 | intron variant | G/C | snv | 0.31 | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |