| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
5 | 151851530 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
0.925 | 0.160 | 14 | 74486404 | missense variant | C/T | snv | 1.7E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 1 | 154275165 | stop gained | C/T | snv | 3.6E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
8 | 11850867 | stop gained | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 5 | 80633904 | missense variant | T/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | ||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 20 | 18497075 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 20 | 45253726 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 151839238 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 10 | 99724057 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 10 | 99716419 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||||
|
0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 |
|
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 | |||||||
|
0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |