Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894281 | 0.882 | 0.320 | 11 | 119677734 | stop gained | C/T | snv | 2 | |||
rs876657374 | 1.000 | 0.320 | 11 | 119677732 | frameshift variant | C/- | delins | 1 | |||
rs878853255 | 1.000 | 0.320 | 11 | 119675192 | frameshift variant | -/A | delins | 1 |