Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 7 | 2570131 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.120 | 17 | 49334880 | intron variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 2573790 | intron variant | T/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 12 | 57096317 | 3 prime UTR variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 154182301 | intron variant | C/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 17 | 49343367 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 146777855 | intron variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 148117775 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 13 | 82963398 | intron variant | A/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 |