| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1560079213 | 3 | 180616697 | splice acceptor variant | T/- | del | 1 | |||||
| rs587778821 | 3 | 180616873 | frameshift variant | TAC/A | delins | 1 | |||||
| rs1007345781 | 3 | 180616604 | frameshift variant | GT/- | delins | 8.7E-06 | 2.8E-05 | 1 | |||
| rs1553800956 | 3 | 180616551 | stop gained | C/A | snv | 1 |