| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs797045140 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 6 | |||
| rs1057520858 | 1.000 | 0.080 | X | 53243445 | stop gained | G/A | snv | 1 | |||
| rs1060499660 | 1.000 | 0.080 | X | 53248219 | missense variant | A/G | snv | 1 | |||
| rs1064795512 | 1.000 | 0.080 | X | 53234646 | frameshift variant | -/C | delins | 1 | |||
| rs1556858912 | 1.000 | 0.080 | X | 53234247 | frameshift variant | -/GGCCT | delins | 1 | |||
| rs1556859744 | 1.000 | 0.080 | X | 53236495 | missense variant | G/A;C | snv | 1 | |||
| rs1556861311 | 1.000 | 0.080 | X | 53243331 | splice donor variant | C/T | snv | 1 | |||
| rs1556863340 | 1.000 | 0.080 | X | 53250900 | frameshift variant | G/- | delins | 1 | |||
| rs1556863398 | 1.000 | 0.080 | X | 53250926 | frameshift variant | -/G | delins | 1 | |||
| rs1556863435 | 1.000 | 0.080 | X | 53250946 | frameshift variant | GCCGG/- | delins | 1 | |||
| rs1556863492 | 1.000 | 0.080 | X | 53251018 | frameshift variant | TAGAGGGG/- | delins | 1 | |||
| rs1556865060 | 1.000 | 0.080 | X | 53255936 | frameshift variant | A/- | del | 1 | |||
| rs1556880284 | 1.000 | 0.080 | X | 53320973 | frameshift variant | GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT | delins | 1 | |||
| rs1569290954 | 1.000 | 0.080 | X | 53234267 | frameshift variant | G/-;GG | delins | 1 | |||
| rs1569291627 | 1.000 | 0.080 | X | 53234811 | frameshift variant | G/- | delins | 1 | |||
| rs1569291699 | 1.000 | 0.080 | X | 53234869 | stop gained | G/A | snv | 1 | |||
| rs1569300277 | 1.000 | 0.080 | X | 53248112 | splice donor variant | A/G | snv | 1 | |||
| rs1569302816 | 1.000 | 0.080 | X | 53250997 | stop gained | G/A | snv | 1 | |||
| rs1569306667 | 1.000 | 0.080 | X | 53256062 | splice acceptor variant | C/T | snv | 1 | |||
| rs267607186 | 1.000 | 0.080 | X | 53247131 | missense variant | G/A | snv | 1 | |||
| rs267607187 | 1.000 | 0.080 | X | 53248778 | missense variant | T/G | snv | 1 | |||
| rs267607188 | 1.000 | 0.080 | X | 53254856 | missense variant | G/A | snv | 1 | |||
| rs267607189 | 1.000 | 0.080 | X | 53250303 | missense variant | C/T | snv | 1 | |||
| rs374220843 | 1.000 | 0.080 | X | 53236386 | stop gained | G/A;T | snv | 5.2E-05 | 1.9E-05 | 1 | |
| rs587777261 | 1.000 | 0.080 | X | 53248133 | stop gained | G/A | snv | 1 |