| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 11 | 64810025 | stop gained | G/A;C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 20 | 16330665 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 0.700 | 0 |