| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1468358104 | 1 | 212858454 | start lost | T/C | snv | 3.7E-05 | 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 | ||||
| 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 | ||
| rs730882175 | 1.000 | 0.120 | 1 | 210804143 | missense variant | C/T | snv | 3 | |||
| rs757347274 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 3 | ||
| rs864309525 | 0.925 | 0.120 | 1 | 156115007 | inframe deletion | GAG/- | delins | 3 | |||
| rs143657539 | 1 | 40092054 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |||
| rs1553153365 | 1 | 23310702 | stop gained | G/A | snv | 2 | |||||
| rs1553194162 | 1.000 | 1 | 1804496 | missense variant | T/C | snv | 2 | ||||
| rs1553238271 | 1.000 | 1 | 7661827 | stop gained | C/T | snv | 2 | ||||
| rs1553252938 | 1 | 19232655 | missense variant | G/T | snv | 2 | |||||
| rs1553255354 | 1.000 | 1 | 229431843 | missense variant | C/G | snv | 2 | ||||
| rs1553259463 | 1.000 | 1 | 113901815 | stop gained | GACAT/- | delins | 2 | ||||
| rs746480833 | 1.000 | 1 | 154569536 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 2.8E-05 | 2 | ||
| rs765530357 | 1.000 | 1 | 197101666 | stop gained | GATAT/- | delins | 4.0E-06 | 2 | |||
| rs899735028 | 1 | 212858455 | start lost | G/T | snv | 1.4E-05 | 2 | ||||
| rs142209254 | 1 | 113896423 | stop gained | T/A;G | snv | 4.0E-06; 4.0E-06 | 1 | ||||
| rs149705131 | 1 | 113901236 | missense variant | C/T | snv | 1.6E-05 | 1 | ||||
| rs1553183771 | 1 | 54758297 | stop gained | G/A | snv | 1 | |||||
| rs1553242554 | 1 | 147908091 | missense variant | G/A | snv | 1 |