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 | 1.000 | 0.200 | 11 | 108365324 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 12 | 1996 | 2017 | |||||
|
5 | 0.925 | 0.280 | 11 | 108325416 | missense variant | C/A;T | snv | 1.4E-05 | 0.800 | 1.000 | 11 | 2003 | 2014 | ||||
|
3 | 0.925 | 0.280 | 11 | 108331877 | splice acceptor variant | A/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 11 | 1998 | 2016 | ||||
|
5 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 0.710 | 1.000 | 11 | 1989 | 2019 | |||
|
4 | 0.882 | 0.240 | 11 | 108335080 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2006 | 2017 | ||||
|
3 | 0.925 | 0.200 | 11 | 108309110 | intron variant | A/G | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 10 | 1996 | 2015 | |||
|
2 | 1.000 | 0.200 | 11 | 108227626 | start lost | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 1996 | 2012 | |||
|
3 | 0.925 | 0.200 | 11 | 108365476 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 1996 | 2016 | |||
|
4 | 1.000 | 0.200 | 11 | 108281168 | missense variant | G/A;T | snv | 1.6E-05 | 1.4E-05 | 0.720 | 1.000 | 9 | 1996 | 2020 | |||
|
4 | 0.882 | 0.280 | 11 | 108312424 | stop gained | G/T | snv | 4.4E-05 | 3.5E-05 | 0.720 | 1.000 | 9 | 1999 | 2014 | |||
|
2 | 1.000 | 0.200 | 11 | 108293479 | splice donor variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1989 | 2014 | ||||
|
4 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.710 | 1.000 | 9 | 2003 | 2019 | ||||
|
2 | 1.000 | 0.200 | 11 | 108227627 | start lost | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 9 | 1996 | 2012 | |||
|
2 | 1.000 | 0.200 | 11 | 108250804 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 0.710 | 1.000 | 8 | 1996 | 2016 | |||
|
3 | 0.925 | 0.280 | 11 | 108289761 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 8 | 1999 | 2015 | ||||
|
2 | 1.000 | 0.200 | 11 | 108365356 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1996 | 2016 | ||||
|
3 | 0.925 | 0.280 | 11 | 108332886 | stop gained | G/A | snv | 4.0E-06 | 5.6E-05 | 0.700 | 1.000 | 7 | 1998 | 2016 | |||
|
3 | 0.925 | 0.280 | 11 | 108227806 | stop gained | C/A;T | snv | 7.2E-05; 2.0E-05 | 0.700 | 1.000 | 7 | 1996 | 2016 | ||||
|
2 | 1.000 | 0.200 | 11 | 108252914 | splice donor variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2014 | ||||
|
3 | 0.925 | 0.280 | 11 | 108257471 | intron variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2016 | |||
|
3 | 0.925 | 0.280 | 11 | 108245027 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 2003 | 2018 | ||||
|
3 | 0.925 | 0.280 | 11 | 108259022 | stop gained | C/G;T | snv | 4.0E-05 | 0.700 | 1.000 | 7 | 1996 | 2014 | ||||
|
2 | 1.000 | 0.200 | 11 | 108304822 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2015 | ||||
|
2 | 1.000 | 0.200 | 11 | 108345869 | stop gained | C/A;G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2016 | |||
|
2 | 1.000 | 0.200 | 11 | 108227873 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2016 |