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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 11 | 77174816 | stop gained | C/T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 1999 | 2011 | |||
|
3 | 0.882 | 0.200 | 11 | 77156969 | stop gained | C/T | snv | 3.6E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 2011 | 2016 | |||
|
2 | 0.925 | 0.200 | 11 | 77202357 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.200 | 11 | 77211170 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 77158426 | stop gained | T/G | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77179828 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||
|
4 | 0.851 | 0.200 | 11 | 77142783 | stop gained | C/A;T | snv | 3.7E-05; 3.6E-03 | 0.700 | 1.000 | 2 | 1999 | 2009 | ||||
|
3 | 0.882 | 0.200 | 11 | 77192243 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2011 | |||
|
2 | 0.925 | 0.200 | 11 | 77211904 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 77189434 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.200 | 11 | 77142737 | stop gained | T/A;C | snv | 0.39 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.200 | 11 | 77190113 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 11 | 77174825 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 11 | 77142742 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 77179123 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.200 | 11 | 77179085 | stop gained | C/T | snv | 8.3E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 11 | 77182577 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.200 | 11 | 77208472 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 11 | 77204141 | stop gained | C/T | snv | 2.7E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.200 | 11 | 77208720 | stop gained | C/T | snv | 9.6E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 11 | 77162889 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 11 | 77181563 | stop gained | G/A;T | snv | 8.1E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 0.925 | 0.200 | 11 | 77205562 | stop gained | C/T | snv | 8.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77211296 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 77211311 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 |