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 | 0.925 | 0.280 | 11 | 108259022 | stop gained | C/G;T | snv | 4.0E-05 | 0.700 | 1.000 | 7 | 1996 | 2016 | ||||
|
2 | 1.000 | 0.200 | 11 | 108332759 | splice region variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1996 | 2015 | ||||
|
2 | 1.000 | 0.200 | 11 | 108330233 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1996 | 2016 | ||||
|
4 | 0.882 | 0.280 | 11 | 108317374 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2015 | ||||
|
2 | 1.000 | 0.200 | 11 | 108345797 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1997 | 2015 | |||||
|
2 | 1.000 | 0.200 | 11 | 108343246 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2015 | ||||
|
3 | 0.925 | 0.200 | 11 | 108365476 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 1996 | 2016 | |||
|
5 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 1996 | 2011 | ||||
|
3 | 0.925 | 0.280 | 11 | 108227806 | stop gained | C/A;T | snv | 7.2E-05; 2.0E-05 | 0.700 | 1.000 | 5 | 1996 | 2013 | ||||
|
2 | 1.000 | 0.200 | 11 | 108293479 | splice donor variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1989 | 2011 | ||||
|
2 | 1.000 | 0.200 | 11 | 108284328 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2011 | ||||
|
2 | 1.000 | 0.200 | 11 | 108251073 | splice donor variant | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2009 | ||||
|
2 | 1.000 | 0.200 | 11 | 108307914 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2014 | ||||
|
2 | 1.000 | 0.200 | 11 | 108271074 | missense variant | T/A;G | snv | 0.700 | 1.000 | 5 | 1999 | 2017 | |||||
|
2 | 1.000 | 0.200 | 11 | 108282796 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 1999 | 2014 | |||
|
3 | 0.925 | 0.280 | 11 | 108292689 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 | 0.700 | 1.000 | 4 | 1998 | 2015 | |||
|
3 | 0.925 | 0.280 | 11 | 108332765 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 1996 | 2004 | ||||
|
2 | 1.000 | 0.200 | 11 | 108345869 | stop gained | C/A;G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2016 | |||
|
3 | 0.925 | 0.280 | 11 | 108310305 | stop gained | C/T | snv | 3.2E-05 | 2.0E-04 | 0.700 | 1.000 | 4 | 1998 | 2015 | |||
|
1 | 11 | 108317500 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2008 | 2015 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108252914 | splice donor variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2013 | ||||
|
3 | 0.925 | 0.280 | 11 | 108244867 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2016 | ||||
|
2 | 1.000 | 0.200 | 11 | 108289759 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2016 | ||||
|
3 | 0.925 | 0.280 | 11 | 108245027 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2003 | 2017 | ||||
|
2 | 1.000 | 0.200 | 11 | 108229328 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2012 |