Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs878854133 | 1.000 | 0.080 | 8 | 31058455 | frameshift variant | A/-;AA | delins | 1.4E-05 | 1 | ||
| rs1198210848 | 1.000 | 0.080 | 8 | 31058535 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs758988621 | 1.000 | 0.080 | 8 | 31064288 | splice acceptor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs747587698 | 1.000 | 0.080 | 8 | 31064304 | frameshift variant | -/G | delins | 1 | |||
| rs371538747 | 1.000 | 0.080 | 8 | 31064406 | stop gained | T/A;C;G | snv | 4.0E-06 | 1 | ||
| rs2230009 | 0.827 | 0.240 | 8 | 31064419 | missense variant | G/A | snv | 5.8E-02 | 7.8E-02 | 5 | |
| rs387906337 | 1.000 | 0.080 | 8 | 31064934 | missense variant | A/T | snv | 1 | |||
| rs267607008 | 1.000 | 0.080 | 8 | 31064962 | missense variant | A/G | snv | 1 | |||
| rs797045118 | 1.000 | 0.080 | 8 | 31065045 | frameshift variant | GA/- | delins | 7.0E-06 | 1 | ||
| rs776785728 | 1.000 | 0.080 | 8 | 31065058 | frameshift variant | AA/- | delins | 6.4E-05 | 2.1E-05 | 1 | |
| rs1554519254 | 1.000 | 0.080 | 8 | 31067035 | frameshift variant | -/AA | delins | 1 | |||
| rs1361270203 | 1.000 | 0.080 | 8 | 31067049 | frameshift variant | -/CT | delins | 1 | |||
| rs752830087 | 1.000 | 0.080 | 8 | 31067052 | frameshift variant | G/- | delins | 1.2E-05 | 1 | ||
| rs1563331288 | 1.000 | 0.080 | 8 | 31067082 | stop gained | T/G | snv | 1 | |||
| rs370324188 | 1.000 | 0.080 | 8 | 31068276 | stop gained | C/T | snv | 8.2E-06 | 7.0E-06 | 1 | |
| rs1554519449 | 1.000 | 0.080 | 8 | 31068326 | splice donor variant | GGTA/- | delins | 1 | |||
| rs1244318419 | 1.000 | 0.080 | 8 | 31076199 | frameshift variant | AACA/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
| rs17847577 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 2 | |
| rs1563338837 | 1.000 | 0.080 | 8 | 31081138 | stop gained | G/T | snv | 1 | |||
| rs1563338855 | 1.000 | 0.080 | 8 | 31081141 | frameshift variant | GA/C | delins | 1 | |||
| rs878854131 | 1.000 | 0.080 | 8 | 31081190 | frameshift variant | A/- | delins | 2.1E-05 | 1 | ||
| rs1563341296 | 1.000 | 0.080 | 8 | 31085164 | splice acceptor variant | A/G | snv | 1 | |||
| rs780555196 | 1.000 | 0.080 | 8 | 31088891 | frameshift variant | C/- | del | 2.8E-05 | 2.1E-05 | 1 | |
| rs777096501 | 1.000 | 0.080 | 8 | 31088966 | splice donor variant | G/A;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
| rs1304645785 | 1.000 | 0.080 | 8 | 31090532 | missense variant | G/A | snv | 1 |