| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
| rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
| rs1559415567 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 3 | |||
| rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
| rs373040154 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 3 | ||
| rs397517643 | 0.925 | 0.160 | 2 | 178592914 | frameshift variant | C/- | del | 3 | |||
| rs397517696 | 0.925 | 0.160 | 2 | 178572287 | frameshift variant | T/- | delins | 3 | |||
| rs397517776 | 0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 | 3 | ||
| rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 | ||
| rs727503565 | 0.925 | 0.160 | 2 | 178574498 | frameshift variant | T/- | delins | 3 | |||
| rs727503586 | 0.925 | 0.160 | 2 | 178589508 | stop gained | A/T | snv | 3 | |||
| rs727504531 | 0.925 | 0.160 | 2 | 178573463 | frameshift variant | A/- | del | 3 | |||
| rs727504535 | 0.925 | 0.160 | 2 | 178538835 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
| rs727504550 | 0.925 | 0.160 | 2 | 178539537 | stop gained | C/T | snv | 3 | |||
| rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
| rs727505284 | 0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
| rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
| rs770038577 | 0.925 | 0.160 | 2 | 178561042 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
| rs775186117 | 0.925 | 0.160 | 2 | 178617393 | stop gained | G/A | snv | 3 | |||
| rs794729265 | 0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs869025545 | 0.925 | 0.160 | 2 | 178566448 | stop gained | G/A | snv | 3 | |||
| rs869312070 | 0.925 | 0.160 | 2 | 178613938 | splice acceptor variant | C/T | snv | 4.1E-06 | 3 | ||
| rs869312112 | 0.925 | 0.160 | 2 | 178590230 | stop gained | G/A | snv | 3 | |||
| rs869312118 | 0.925 | 0.160 | 2 | 178562617 | stop gained | G/A | snv | 3 |