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 | 10 | 54317362 | missense variant | C/T | snv | 0.810 | 1.000 | 4 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.200 | 10 | 54369194 | stop gained | G/A;C;T | snv | 4.0E-06; 1.2E-05 | 0.810 | 1.000 | 4 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 54183451 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 53809339 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 10 | 53995732 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 10 | 54664256 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.200 | 10 | 53961893 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 54317359 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 10 | 53938872 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 54023049 | inframe deletion | CAA/- | delins | 5.6E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 10 | 53806811 | frameshift variant | -/T | delins | 2.4E-05 | 4.9E-05 | 0.700 | 0 |