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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 14 | 74486404 | missense variant | C/T | snv | 1.7E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.120 | 10 | 99724057 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.040 | 1 | 154275165 | stop gained | C/T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
9 | 0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 3 | 45035631 | missense variant | G/A | snv | 0.49 | 0.43 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 |