| 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 | 0.925 | 0.160 | 1 | 11970750 | stop gained | G/A;C | snv | 4.0E-06 | 0.810 | 1.000 | 6 | 1994 | 2006 | ||||
|
1 | 1.000 | 0.160 | 1 | 11974656 | missense variant | G/A | snv | 2.8E-05 | 0.800 | 1.000 | 6 | 1994 | 2006 | ||||
|
1 | 1.000 | 0.160 | 1 | 11965542 | stop gained | C/G | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 1997 | 1999 | |||
|
1 | 1.000 | 0.160 | 1 | 11960649 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.160 | 1 | 11958627 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 1 | 11972977 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 1 | 11970709 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 11972968 | missense variant | G/A | snv | 4.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 1 | 11966985 | splice acceptor variant | A/C;G | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 1 | 11950406 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 1 | 11966258 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 11966985 | splice acceptor variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 11952736 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 11950378 | frameshift variant | G/- | delins | 2.1E-05 | 0.700 | 0 |