Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 46 | |||
rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 19 | ||
rs61749721 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 17 | |||
rs61751362 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 14 | ||
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 9 | |||
rs61752992 | 0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 9 | |||
rs61749715 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 8 | |||
rs61750241 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 7 | |||
rs179363900 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 6 | |
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 5 | |||
rs61751444 | 0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv | 5 | |||
rs1557135315 | 0.851 | 0.080 | X | 154030627 | splice acceptor variant | GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- | delins | 4 | |||
rs267608597 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 4 | |||
rs267608426 | 0.882 | 0.080 | X | 154032473 | frameshift variant | TCTT/- | delins | 3 | |||
rs61748392 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 3 | |||
rs1057519404 | 1.000 | 0.080 | X | 154030716 | frameshift variant | -/G | delins | 2 | |||
rs267608571 | 1.000 | 0.080 | X | 154030686 | frameshift variant | ACGGGGGC/- | delins | 2 | |||
rs267608590 | 0.925 | 0.080 | X | 154030668 | frameshift variant | GG/A | delins | 2 | |||
rs61751449 | 0.925 | 0.080 | X | 154030864 | missense variant | G/A;C | snv | 2 | |||
rs61753965 | 0.925 | 0.080 | X | 154030612 | stop gained | G/A | snv | 1.7E-05 | 2 | ||
rs63094662 | 0.925 | 0.080 | X | 154030648 | stop gained | C/A;T | snv | 8.7E-05; 4.1E-05 | 2 | ||
rs267608634 | 1.000 | 0.080 | X | 154030412 | frameshift variant | CT/- | delins | 1 | |||
rs61750255 | 1.000 | 0.080 | X | 154030978 | missense variant | T/C | snv | 1 |