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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 11 | 77142763 | missense variant | G/A;T | snv | 8.2E-06; 4.1E-06 | 0.700 | 1.000 | 6 | 1997 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77162854 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
3 | 0.882 | 0.200 | 11 | 77160272 | missense variant | C/A | snv | 0.700 | 1.000 | 4 | 1997 | 2012 | |||||
|
3 | 0.882 | 0.200 | 11 | 77156990 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||
|
3 | 0.882 | 0.200 | 11 | 77174789 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77156022 | missense variant | T/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 3 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.200 | 11 | 77162118 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.120 | 11 | 77157000 | missense variant | G/A;C | snv | 2.7E-04; 4.0E-06 | 0.800 | 1.000 | 3 | 1997 | 2017 | ||||
|
2 | 0.925 | 0.200 | 11 | 77166162 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 1997 | 2017 | |||||
|
2 | 0.925 | 0.200 | 11 | 77189343 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 3 | 2005 | 2013 | |||||
|
2 | 0.925 | 0.200 | 11 | 77194496 | frameshift variant | C/- | delins | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
3 | 0.882 | 0.200 | 11 | 77184715 | missense variant | G/A;C | snv | 5.1E-06; 5.1E-06 | 0.700 | 1.000 | 3 | 2014 | 2016 | ||||
|
3 | 0.882 | 0.200 | 11 | 77199804 | frameshift variant | A/- | del | 8.3E-06 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.200 | 11 | 77142707 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 1997 | 2009 | |||||
|
2 | 0.925 | 0.200 | 11 | 77201512 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
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 | ||||
|
2 | 0.925 | 0.200 | 11 | 77179044 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 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 | |||||
|
2 | 0.925 | 0.200 | 11 | 77156012 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
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 | ||||
|
3 | 0.882 | 0.200 | 11 | 77190709 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.200 | 11 | 77142708 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |