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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.882 | 0.080 | 5 | 60949318 | intron variant | A/G | snv | 0.15 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.882 | 0.080 | 6 | 41749967 | intron variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 3 | 2011 | 2016 | |||||||||
|
0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.851 | 0.120 | 9 | 99123789 | intron variant | T/C | snv | 6.5E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.851 | 0.080 | 17 | 31574981 | intron variant | G/C | snv | 0.66 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 8 | 142684467 | upstream gene variant | G/A | snv | 0.23 |
|
0.020 | 0.500 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 1998 | 1999 | |||||||||
|
0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.763 | 0.240 | 1 | 204519150 | intron variant | G/C | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 5 | 40795766 | intron variant | C/T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2018 |