Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555321367 | 1.000 | 14 | 28768138 | stop gained | A/T | snv | 2 | ||||
| rs1555321405 | 1.000 | 14 | 28768359 | frameshift variant | -/G | delins | 2 | ||||
| rs796052462 | 1.000 | 14 | 28767840 | missense variant | C/A;G | snv | 2 |