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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 | 0.800 | 1.000 | 11 | 2001 | 2014 | |||
|
2 | 0.925 | 0.120 | 16 | 56514574 | missense variant | A/C | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 16 | 56511214 | missense variant | C/A | snv | 0.800 | 1.000 | 8 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 56502454 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2011 | ||||
|
4 | 0.851 | 0.120 | 16 | 56496982 | missense variant | C/G;T | snv | 1.2E-04; 2.0E-05 | 0.700 | 1.000 | 8 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 16 | 56497867 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 8 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.120 | 16 | 56485721 | missense variant | C/T | snv | 4.0E-05 | 3.5E-05 | 0.700 | 1.000 | 8 | 2001 | 2011 | |||
|
1 | 1.000 | 0.120 | 16 | 56502453 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.120 | 16 | 56514557 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2011 | |||
|
3 | 0.882 | 0.120 | 16 | 56502790 | stop gained | G/A | snv | 1.9E-04 | 9.8E-05 | 0.700 | 1.000 | 5 | 2001 | 2011 | |||
|
2 | 0.925 | 0.120 | 16 | 56499867 | stop gained | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2019 | |||
|
5 | 0.882 | 0.120 | 16 | 56484820 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 0.925 | 0.120 | 16 | 56502799 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 3 | 2001 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 56514623 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2001 | 2017 | |||
|
2 | 0.925 | 0.120 | 16 | 56497063 | stop gained | G/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||
|
2 | 0.925 | 0.120 | 16 | 56497013 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 56506137 | stop gained | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2016 | |||
|
8 | 0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.120 | 16 | 56506191 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 16 | 56510004 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 16 | 56510006 | frameshift variant | A/- | del | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 56511228 | frameshift variant | A/- | del | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
8 | 0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 16 | 56484868 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 16 | 56496967 | frameshift variant | AT/- | del | 0.700 | 1.000 | 1 | 2005 | 2005 |