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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 13 | 23332502 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 23330903 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.160 | 13 | 23330592 | stop gained | -/T | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.160 | 13 | 23338751 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23355651 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23338157 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23337467 | stop gained | G/A;C | snv | 3.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1.000 | 0.160 | 13 | 23336372 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2000 | 2001 | ||||
|
1 | 1.000 | 0.160 | 13 | 23334206 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.160 | 13 | 23353788 | stop gained | G/A;C | snv | 1.6E-05; 1.2E-05 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23337521 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.160 | 13 | 23332691 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.160 | 13 | 23341652 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.160 | 13 | 23331644 | stop gained | G/A;C;T | snv | 4.0E-06; 8.0E-06; 4.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23355780 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 13 | 23334368 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 23331716 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.160 | 13 | 23330744 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 13 | 23341220 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 23338247 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 13 | 23332970 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.160 | 13 | 23336600 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 13 | 23333012 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 23339781 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 23335009 | stop gained | A/T | snv | 0.700 | 0 |