Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs546151500 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 5 | ||
| rs369691608 | 1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 | 5 | ||
| rs1447313633 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 4 | ||||
| rs1559296368 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 4 |