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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.925 | 0.160 | 8 | 128180025 | intron variant | T/C | snv | 0.27 |
|
0.800 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2012 | |||||||||
|
1.000 | 0.120 | 2 | 60839531 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.827 | 0.160 | 6 | 29850791 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2011 | 2012 | |||||||||
|
1.000 | 0.120 | 6 | 137660447 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 10 | 8050720 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 |