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 | 77142737 | stop gained | T/A;C | snv | 0.39 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 0.925 | 0.200 | 11 | 77162845 | splice region variant | C/G | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2011 | ||||
|
3 | 0.882 | 0.200 | 11 | 77190113 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 11 | 77156754 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77179069 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
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 | |||||||
|
1 | 1.000 | 0.120 | 11 | 77194352 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 77156683 | missense variant | C/T | snv | 2.8E-05; 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 2011 | 2016 | |||
|
6 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 0.700 | 1.000 | 7 | 1999 | 2012 | |||
|
3 | 0.882 | 0.200 | 11 | 77172850 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
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 | 77202357 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.200 | 11 | 77156012 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 11 | 77211170 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
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 | 77162854 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
3 | 0.882 | 0.200 | 11 | 77189348 | missense variant | G/A | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 10 | 1999 | 2016 | |||
|
2 | 0.925 | 0.200 | 11 | 77206108 | missense variant | G/A | snv | 3.3E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 2010 | 2016 | |||
|
3 | 0.882 | 0.200 | 11 | 77156909 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 1997 | 2014 | |||
|
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 | 77175465 | splice donor variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 1997 | 2009 | |||
|
3 | 0.882 | 0.200 | 11 | 77190709 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.200 | 11 | 77162118 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2005 | 2016 | |||||
|
2 | 0.925 | 0.200 | 11 | 77142708 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |