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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 6082658 | regulatory region variant | T/C | snv | 4.8E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 16 | 11134855 | intron variant | C/T | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 217812863 | intron variant | G/A | snv | 7.4E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 17 | 58197210 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 |
|
0.020 | 0.500 | 2 | 2003 | 2004 | |||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.200 | 22 | 36937894 | missense variant | C/T | snv | 2.6E-02 | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 16 | 27356651 | intron variant | G/A | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |