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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.950 | 4 | 2004 | 2020 | |||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.900 | 0.955 | 3 | 2007 | 2018 | |||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.900 | 0.917 | 1 | 2007 | 2015 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.860 | 0.800 | 2 | 2007 | 2019 | ||||||||
|
0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 |
|
0.840 | 1.000 | 1 | 2007 | 2010 | ||||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.830 | 1.000 | 3 | 2007 | 2019 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.830 | 0.667 | 2 | 2009 | 2019 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.830 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 |
|
0.830 | 1.000 | 1 | 2008 | 2013 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv |
|
0.820 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
1.000 | 0.120 | 14 | 100839708 | intron variant | A/G | snv | 0.45 |
|
0.820 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.810 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 |
|
0.810 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.807 | 0.200 | 22 | 37195278 | intron variant | G/A | snv | 0.49 |
|
0.810 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 |
|
0.810 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2007 | 2017 | ||||||||
|
0.925 | 0.160 | 10 | 88263276 | upstream gene variant | T/C | snv | 0.25 |
|
0.810 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.810 | 1.000 | 1 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 12 | 111270654 | non coding transcript exon variant | A/C | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 |
|
0.810 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.882 | 0.200 | 9 | 4291747 | intron variant | C/A;G | snv |
|
0.810 | 0.500 | 1 | 2009 | 2017 | |||||||||
|
0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
0.851 | 0.360 | 6 | 90248512 | intron variant | C/G | snv | 0.36 |
|
0.800 | 1.000 | 2 | 2008 | 2011 |