| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 80633904 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 32014269 | missense variant | A/G | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 45035631 | missense variant | G/A | snv | 0.49 | 0.43 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
8 | 11850867 | stop gained | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
5 | 151851530 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
6 | 38737948 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 151839238 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 |