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 | 0.200 | 11 | 108235716 | missense variant | T/A | snv | 1.6E-02 | 6.1E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.882 | 0.280 | 11 | 108353828 | missense variant | A/G | snv | 2.2E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.320 | 11 | 108310222 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.200 | 11 | 108333925 | missense variant | T/C;G | snv | 0.700 | 1.000 | 22 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.200 | 11 | 108317377 | missense variant | T/C | snv | 0.700 | 1.000 | 22 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.200 | 11 | 108335063 | missense variant | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 22 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.200 | 11 | 108345795 | missense variant | G/A;C | snv | 0.700 | 1.000 | 22 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.200 | 11 | 108257583 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
2 | 1.000 | 0.200 | 11 | 108301698 | missense variant | C/G;T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
1 | 1.000 | 0.200 | 11 | 108251938 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | ||||
|
2 | 1.000 | 0.200 | 11 | 108345889 | missense variant | T/A;C;G | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | ||||
|
3 | 0.925 | 0.320 | 11 | 108284281 | frameshift variant | G/- | delins | 4.2E-05 | 0.700 | 1.000 | 18 | 1996 | 2017 | ||||
|
2 | 1.000 | 0.200 | 11 | 108330233 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1996 | 2016 | ||||
|
4 | 0.882 | 0.360 | 11 | 108365360 | missense variant | G/A;C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 14 | 1998 | 2013 | |||
|
4 | 0.882 | 0.280 | 11 | 108353881 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 0.700 | 1.000 | 13 | 1996 | 2014 | ||||
|
2 | 1.000 | 0.200 | 11 | 108335959 | stop gained | A/C;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 13 | 1996 | 2016 | ||||
|
3 | 0.925 | 0.280 | 11 | 108256340 | splice region variant | G/A | snv | 4.4E-05 | 2.8E-05 | 0.700 | 1.000 | 12 | 1998 | 2016 | |||
|
3 | 0.925 | 0.280 | 11 | 108315911 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1999 | 2016 | |||
|
4 | 0.882 | 0.320 | 11 | 108331885 | inframe deletion | TAGAATTTC/- | delins | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 1995 | 2012 | |||
|
2 | 1.000 | 0.200 | 11 | 108365415 | frameshift variant | -/A | delins | 0.700 | 1.000 | 12 | 1996 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108335957 | frameshift variant | ATAAG/- | del | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 12 | 1998 | 2016 | |||
|
2 | 1.000 | 0.200 | 11 | 108365324 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 12 | 1996 | 2017 | |||||
|
2 | 1.000 | 0.200 | 11 | 108332851 | frameshift variant | TATTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 11 | 1996 | 2015 | ||||
|
3 | 0.925 | 0.280 | 11 | 108251026 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 11 | 1996 | 2016 | |||||
|
3 | 0.925 | 0.280 | 11 | 108331877 | splice acceptor variant | A/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 11 | 1998 | 2016 |