| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs281864996 | 0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 | 10 | |
| rs1555269154 | 0.851 | 0.280 | 12 | 101761307 | frameshift variant | -/CTTTGTGA | delins | 7 | |||
| rs1060499680 | 0.882 | 0.200 | 12 | 101768036 | splice donor variant | C/A;T | snv | 4.0E-06 | 6 | ||
| rs546802775 | 0.851 | 0.240 | 12 | 101765329 | intron variant | TTT/-;TT;TTTT | delins | 5.1E-06 | 5 |