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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.320 | 17 | 58219230 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.320 | 17 | 58218618 | splice donor variant | A/G | snv | 3.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.320 | 17 | 58206553 | splice region variant | ATGCCATTGGGACAGCCTCAGGTTTCTGC/- | delins | 1.3E-03 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.320 | 17 | 58210980 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | 17 | 58219176 | frameshift variant | -/CCGGG | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 17 | 58212981 | splice donor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 17 | 58214748 | stop gained | G/A | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 17 | 58206543 | splice acceptor variant | -/C | delins | 6.5E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.320 | 17 | 58207959 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 17 | 58216137 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 17 | 58208585 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 17 | 58212996 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 17 | 58207098 | frameshift variant | G/- | delins | 8.0E-06 | 2.1E-05 | 0.700 | 0 |