| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918243 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 5 | |
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
| rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
| rs1553212545 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 3 | ||||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553238271 | 1.000 | 1 | 7661827 | stop gained | C/T | snv | 2 | ||||
| rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
| rs1553255354 | 1.000 | 1 | 229431843 | missense variant | C/G | snv | 2 | ||||
| rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
| rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
| rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 | ||||
| rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
| rs372754256 | 1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 | 3 | ||
| rs387907306 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 4 | |||
| rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 | |||
| rs746480833 | 1.000 | 1 | 154569536 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 2.8E-05 | 2 | ||
| rs757347274 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 3 | ||
| rs765530357 | 1.000 | 1 | 197101666 | stop gained | GATAT/- | delins | 4.0E-06 | 2 | |||
| rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
| rs1057518496 | 1.000 | 2 | 199349006 | stop gained | G/A | snv | 2 | ||||
| rs1197561990 | 0.925 | 0.080 | 2 | 151664609 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 3 | ||
| rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 10 | |
| rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 15 |