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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | X | 154191716 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | X | 154154602 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 5 | 74713584 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | X | 132084546 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 12 | 49295697 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 4 | 102634957 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.827 | 0.160 | 22 | 50625392 | missense variant | G/A | snv | 3.9E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.827 | 0.160 | 6 | 42722199 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 5 | 110761543 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 102639814 | missense variant | C/T | snv | 8.8E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 6 | 42721838 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
5 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89550545 | missense variant | C/T | snv | 3.6E-05 | 1.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89531903 | splice acceptor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.160 | 16 | 89553853 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.925 | 0.120 | 1 | 31728621 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 |