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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 23603523 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 16 | 23607958 | stop gained | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 16 | 23624008 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 16 | 23629276 | splice acceptor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 23635232 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | 16 | 23635788 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 16 | 23638072 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 16 | 23638106 | frameshift variant | C/- | del | 0.700 | 0 |