Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs760929207 | 0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 | 12 | |
| rs1559155800 | 1.000 | 0.200 | 2 | 219568150 | missense variant | C/T | snv | 7 | |||
| rs1553538488 | 1.000 | 0.200 | 2 | 219570542 | frameshift variant | -/G | delins | 2 |