Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1556656818 | 1.000 | 0.120 | X | 31479046 | frameshift variant | -/A | delins | 1 | |||
| rs1557380496 | 1.000 | 0.120 | X | 32484988 | frameshift variant | -/A | delins | 1 | |||
| rs796523999 | 1.000 | 0.120 | X | 32454659 | splice donor variant | -/A | delins | 1 | |||
| rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 | |||
| rs1556656456 | 1.000 | 0.120 | X | 31478359 | frameshift variant | -/C | delins | 1 | |||
| rs1557079469 | 1.000 | 0.120 | X | 32844808 | frameshift variant | -/C | delins | 1 | |||
| rs1557369413 | 1.000 | 0.120 | X | 32463481 | frameshift variant | -/CT | delins | 1 | |||
| rs863225007 | 0.925 | 0.160 | X | 31968341 | frameshift variant | -/T | delins | 2 | |||
| rs1060502635 | 1.000 | 0.120 | X | 32545250 | frameshift variant | -/T | delins | 1 | |||
| rs1556929259 | 1.000 | 0.120 | X | 32697972 | stop gained | -/T | delins | 1 | |||
| rs1556930839 | 1.000 | 0.120 | X | 32699286 | frameshift variant | -/T | delins | 1 | |||
| rs1557084128 | 1.000 | 0.120 | X | 32849760 | frameshift variant | -/T | delins | 1 | |||
| rs1060502630 | 1.000 | 0.120 | X | 31169589 | frameshift variant | -/TT | delins | 1 | |||
| rs1060502648 | 1.000 | 0.120 | X | 31209627 | frameshift variant | A/- | del | 1 | |||
| rs1556035795 | 1.000 | 0.120 | X | 31177956 | frameshift variant | A/- | del | 1 | |||
| rs1557359217 | 1.000 | 0.120 | X | 32441284 | frameshift variant | A/- | del | 1 | |||
| rs1557396600 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 2 | |||
| rs1556930769 | 1.000 | 0.120 | X | 32699257 | stop gained | A/C | snv | 1 | |||
| rs146071084 | 0.925 | 0.160 | X | 32454660 | splice donor variant | A/C;T | snv | 2 | |||
| rs1060502641 | 1.000 | 0.120 | X | 31968337 | splice donor variant | A/G | snv | 1 | |||
| rs1057524037 | 1.000 | 0.120 | X | 31206610 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
| rs1557380616 | 0.925 | 0.120 | X | 32485053 | stop gained | A/T | snv | 2 | |||
| rs1060502627 | 1.000 | 0.120 | X | 32518024 | stop gained | A/T | snv | 1 | |||
| rs1060502646 | 1.000 | 0.120 | X | 32342131 | frameshift variant | AAATTTGC/- | delins | 1 | |||
| rs1556035817 | 1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins | 1 |