Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060502647 | 1.000 | 0.120 | X | 32364635 | frameshift variant | GT/- | delins | 1 | |||
| rs1060502648 | 1.000 | 0.120 | X | 31209627 | frameshift variant | A/- | del | 1 | |||
| rs1060502652 | 1.000 | 0.120 | X | 33020191 | frameshift variant | CT/- | delins | 1 | |||
| rs1060502653 | 1.000 | 0.120 | X | 31204113 | splice acceptor variant | TCTACAAAGG/- | delins | 1 | |||
| rs1060502656 | 1.000 | 0.120 | X | 32287702 | splice acceptor variant | C/T | snv | 1 | |||
| rs1064325 | 1.000 | 0.120 | X | 32345999 | stop gained | G/A;T | snv | 1 | |||
| rs1064792967 | 1.000 | 0.120 | X | 31820041 | frameshift variant | GGT/AAAC | delins | 1 | |||
| rs1239018406 | 1.000 | 0.120 | X | 32699111 | splice donor variant | C/A;T | snv | 1 | |||
| rs1340365803 | 1.000 | 0.120 | X | 32809553 | stop gained | C/A;T | snv | 9.5E-06 | 1 | ||
| rs1385794215 | 1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 | 1 | ||
| rs1556028034 | 1.000 | 0.120 | X | 31172375 | frameshift variant | T/- | delins | 1 | |||
| 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 | |||
| rs1556040444 | 1.000 | 0.120 | X | 31180482 | splice acceptor variant | C/T | snv | 1 | |||
| rs1556046080 | 1.000 | 0.120 | X | 31182822 | frameshift variant | GGGCAGCCAC/- | delins | 1 | |||
| rs1556256329 | 1.000 | 0.120 | X | 31206581 | splice donor variant | C/T | snv | 1 | |||
| rs1556503937 | 1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv | 1 | |||
| rs1556656456 | 1.000 | 0.120 | X | 31478359 | frameshift variant | -/C | delins | 1 | |||
| rs1556656487 | 1.000 | 0.120 | X | 31478368 | frameshift variant | G/- | delins | 1 | |||
| rs1556656818 | 1.000 | 0.120 | X | 31479046 | frameshift variant | -/A | delins | 1 | |||
| rs1556656847 | 1.000 | 0.120 | X | 31479072 | frameshift variant | G/- | delins | 1 | |||
| rs1556665052 | 1.000 | 0.120 | X | 31496787 | splice donor variant | C/T | snv | 1 | |||
| rs1556665303 | 1.000 | 0.120 | X | 31496946 | splice acceptor variant | T/C | snv | 1 | |||
| rs1556764880 | 1.000 | 0.120 | X | 31627778 | frameshift variant | CAAGAAACTTTTCCAGG/- | delins | 1 | |||
| rs1556802319 | 1.000 | 0.120 | X | 32565701 | splice donor variant | C/A | snv | 1 |