| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs376903331 | 6 | 38926054 | splice acceptor variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 1 | ||||
| rs543369426 | 19 | 55166064 | splice acceptor variant | C/T | snv | 2.0E-05 | 9.1E-05 | 1 | |||
| rs565076112 | 5 | 13922330 | splice acceptor variant | T/C | snv | 2.4E-05 | 1 | ||||
| rs745800344 | 2 | 26444221 | splice acceptor variant | G/T | snv | 8.0E-06 | 7.0E-06 | 1 | |||
| rs750708201 | 17 | 80050062 | splice acceptor variant | A/G | snv | 1.6E-05 | 7.0E-06 | 1 | |||
| rs756235547 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 1 | |||
| rs757801770 | 5 | 13883096 | splice acceptor variant | T/G | snv | 1 | |||||
| rs762664261 | 17 | 80099525 | splice acceptor variant | A/C;G | snv | 4.1E-06 | 1 | ||||
| rs764066045 | 16 | 84174667 | splice acceptor variant | A/C | snv | 4.8E-05 | 1 | ||||
| rs765025514 | 7 | 770470 | splice acceptor variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 1 | ||||
| rs769267893 | 5 | 13928180 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||||
| rs774081599 | 17 | 80087606 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||||
| rs863224503 | 5 | 13708337 | splice acceptor variant | T/G | snv | 1 | |||||
| rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
| rs746242380 | 1.000 | 0.080 | 17 | 44902646 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 1.6E-05 | 2.8E-05 | 4 | |
| rs587777498 | 0.925 | 0.160 | 5 | 55233272 | frameshift variant | CAGGG/-;CAGGGCAGGG | delins | 3 | |||
| rs587777499 | 0.925 | 0.160 | 5 | 55233261 | frameshift variant | -/CGGGC;CGGGCCGGGC | delins | 3 | |||
| rs587777502 | 0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 | 3 | ||
| rs863223325 | 0.925 | 0.160 | 12 | 48918751 | frameshift variant | AT/- | delins | 3 | |||
| rs1060501460 | 1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 | 2 | ||
| rs1349668884 | 1.000 | 0.160 | 19 | 55159416 | frameshift variant | -/T | delins | 2 | |||
| rs1569163423 | 1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins | 2 | |||
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs397515424 | 1.000 | 8 | 132632794 | frameshift variant | TT/- | del | 2.0E-05 | 7.0E-06 | 2 | ||
| rs397515425 | 1.000 | 8 | 132632816 | frameshift variant | -/T | delins | 4.0E-06 | 2 |