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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 13 | 2004 | 2012 | ||||
|
10 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 0.700 | 1.000 | 12 | 2000 | 2018 | |||
|
2 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 10 | 2000 | 2014 | ||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.700 | 1.000 | 9 | 2002 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2013 | |||
|
4 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 9 | 2004 | 2015 | |||
|
6 | 0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 | 0.700 | 1.000 | 8 | 2002 | 2014 | |||
|
3 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 0.700 | 1.000 | 8 | 2000 | 2011 | |||
|
2 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 0.700 | 1.000 | 6 | 2004 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 0.700 | 1.000 | 6 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 5 | 2004 | 2009 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2004 | 2013 | |||||
|
2 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2005 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 0.700 | 1.000 | 2 | 2004 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179552601 | splice donor variant | A/T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 |