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 | 0.160 | X | 63638143 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 7 | 99203201 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 1 | 197435519 | frameshift variant | AG/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.160 | 5 | 151855144 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 22 | 42213495 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 10 | 87952170 | stop gained | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.160 | 2 | 166046970 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 53573795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 22 | 42212712 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 5 | 151856384 | splice acceptor variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | 1 | 109075001 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 10 | 76944829 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
5 | 0.882 | 0.240 | 1 | 109066220 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 124923996 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.200 | X | 53405268 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |