| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.320 | 6 | 32658534 | upstream gene variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.280 | 10 | 6052734 | intron variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 106219660 | intron variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 3 | 188402113 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 12 | 57099944 | intron variant | T/G | snv | 7.8E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.200 | 15 | 67163292 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 12 | 111494996 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.200 | 5 | 35862739 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 9007290 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |