| 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 | 0.080 | 1 | 29196234 | stop gained | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 29216612 | frameshift variant | TGAT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 29200574 | missense variant | G/A | snv | 6.4E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 29196235 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 29202004 | missense variant | C/T | snv | 7.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.080 | 6 | 41909351 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 6 | 41909351 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 |