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 | 0.120 | 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 | |||||
|
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 | |||
|
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 | |||
|
3 | 0.882 | 0.200 | 11 | 77156904 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 1996 | 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 | |||
|
2 | 0.925 | 0.200 | 11 | 77213908 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 1999 | 2017 | |||
|
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 | |||
|
3 | 0.882 | 0.200 | 11 | 77205554 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2012 | |||
|
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 | 77206108 | missense variant | G/A | snv | 3.3E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 2010 | 2016 | |||
|
1 | 1.000 | 0.120 | 11 | 77184688 | missense variant | G/T | snv | 2.2E-04 | 2.0E-04 | 0.700 | 1.000 | 5 | 2011 | 2017 | |||
|
2 | 0.925 | 0.200 | 11 | 77205598 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
3 | 0.882 | 0.200 | 11 | 77208780 | missense variant | G/A | snv | 1.1E-05 | 6.3E-05 | 0.700 | 1.000 | 5 | 2009 | 2016 | |||
|
2 | 0.925 | 0.200 | 11 | 77162845 | splice region variant | C/G | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2011 | ||||
|
2 | 0.925 | 0.200 | 11 | 77162854 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
2 | 0.925 | 0.200 | 11 | 77207402 | splice region variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2014 | ||||
|
2 | 0.925 | 0.200 | 11 | 77156676 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||
|
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 | |||||
|
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 | |||
|
2 | 0.925 | 0.200 | 11 | 77189343 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 3 | 2005 | 2013 |