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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
4 | 0.882 | 0.160 | 14 | 96486941 | missense variant | T/C;G | snv | 1.5E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.160 | 16 | 71137272 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 19 | 11426182 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 5 | 13793709 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 12 | 89470461 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 9 | 34514436 | missense variant | G/A;T | snv | 7.6E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80087766 | missense variant | G/A | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |