| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
| rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
| rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
| rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 18 | |||
| rs150299874 | 1.000 | 0.120 | 14 | 50302901 | splice donor variant | C/T | snv | 1.2E-05 | 7.0E-06 | 5 |