| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 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 | ||||||||
|
0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.720 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
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 | ||||||||
|
0.807 | 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 | ||||||||
|
0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.827 | 0.160 | 8 | 127088680 | non coding transcript exon variant | A/G | snv | 1.7E-02 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2018 |