Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1385794215 | 1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 | 1 | ||
rs1060502625 | 1.000 | 0.120 | X | 31147347 | frameshift variant | C/- | delins | 1 | |||
rs878854366 | 1.000 | 0.120 | X | 31169486 | frameshift variant | CT/- | delins | 1 | |||
rs886043375 | 0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins | 2 | |||
rs1060502630 | 1.000 | 0.120 | X | 31169589 | frameshift variant | -/TT | delins | 1 | |||
rs1556028034 | 1.000 | 0.120 | X | 31172375 | frameshift variant | T/- | delins | 1 | |||
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs1556035795 | 1.000 | 0.120 | X | 31177956 | frameshift variant | A/- | del | 1 | |||
rs1556035817 | 1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins | 1 | |||
rs398123832 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 3 | |||
rs104894790 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 2 | |||
rs104894787 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 3 | |||
rs886042840 | 0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins | 2 | |||
rs398123828 | 1.000 | 0.120 | X | 31180369 | splice donor variant | C/A;T | snv | 1 | |||
rs398123827 | 1.000 | 0.120 | X | 31180423 | stop gained | G/A | snv | 1 | |||
rs1556040444 | 1.000 | 0.120 | X | 31180482 | splice acceptor variant | C/T | snv | 1 | |||
rs104894789 | 1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv | 1 | |||
rs1556046080 | 1.000 | 0.120 | X | 31182822 | frameshift variant | GGGCAGCCAC/- | delins | 1 | |||
rs398124105 | 0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins | 2 | |||
rs1060502653 | 1.000 | 0.120 | X | 31204113 | splice acceptor variant | TCTACAAAGG/- | delins | 1 | |||
rs1556256329 | 1.000 | 0.120 | X | 31206581 | splice donor variant | C/T | snv | 1 | |||
rs1057524037 | 1.000 | 0.120 | X | 31206610 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
rs886043989 | 0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv | 2 | |||
rs1060502648 | 1.000 | 0.120 | X | 31209627 | frameshift variant | A/- | del | 1 | |||
rs1060502624 | 1.000 | 0.120 | X | 31261000 | frameshift variant | TTTG/- | delins | 1 |