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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 11 | 9956424 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 11 | 9951515 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
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 | 4 | 99313834 | missense variant | C/T | snv | 3.7E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 11 | 9907995 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9757072 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9754765 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 3 | 9751845 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 3 | 9751114 | missense variant | G/C | snv | 5.2E-05 | 1.7E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
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 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 17 | 80964404 | 3 prime UTR variant | G/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 80600927 | intron variant | G/A;T | snv | 5.7E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 80270029 | downstream gene variant | T/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 4 | 79043433 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 16 | 79005703 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 |