Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 29 | |||
rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 6 |