Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs184953805 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 8 | |||
| rs78300695 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 8 |
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs184953805 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 8 | |||
| rs78300695 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 8 |