Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs387906337 | 1.000 | 0.080 | 8 | 31064934 | missense variant | A/T | snv | 1 | |||
| rs587776621 | 1.000 | 0.080 | 8 | 31157462 | frameshift variant | -/A | delins | 1 | |||
| rs606231162 | 1.000 | 0.080 | 8 | 31154622 | splice region variant | AGAC/- | delins | 1 | |||
| rs747587698 | 1.000 | 0.080 | 8 | 31064304 | frameshift variant | -/G | delins | 1 | |||
| rs748860208 | 1.000 | 0.080 | 8 | 31141490 | frameshift variant | AACA/- | delins | 5.6E-05 | 1 | ||
| rs759972548 | 1.000 | 0.080 | 8 | 31141495 | frameshift variant | AG/- | delins | 1.4E-05 | 1 | ||
| rs778872619 | 1.000 | 0.080 | 8 | 31143616 | frameshift variant | A/-;AA | delins | 1 | |||
| rs797045118 | 1.000 | 0.080 | 8 | 31065045 | frameshift variant | GA/- | delins | 7.0E-06 | 1 | ||
| rs878854131 | 1.000 | 0.080 | 8 | 31081190 | frameshift variant | A/- | delins | 2.1E-05 | 1 | ||
| rs878854133 | 1.000 | 0.080 | 8 | 31058455 | frameshift variant | A/-;AA | delins | 1.4E-05 | 1 | ||
| rs878854136 | 1.000 | 0.080 | 8 | 31120338 | frameshift variant | -/AT | delins | 1 | |||
| rs371538747 | 1.000 | 0.080 | 8 | 31064406 | stop gained | T/A;C;G | snv | 4.0E-06 | 1 | ||
| rs369158322 | 1.000 | 0.080 | 8 | 31150454 | missense variant | A/C;T | snv | 4.0E-06 | 1 | ||
| rs1383589957 | 1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 | 1 | |
| rs113993961 | 1.000 | 0.080 | 8 | 31141680 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
| rs1284409960 | 1.000 | 0.080 | 8 | 31147072 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs757808169 | 1.000 | 0.080 | 8 | 31090857 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs772319506 | 1.000 | 0.080 | 8 | 31091900 | splice donor variant | T/G | snv | 4.0E-06 | 1 | ||
| rs188554751 | 0.851 | 0.200 | 8 | 31120403 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
| rs1198210848 | 1.000 | 0.080 | 8 | 31058535 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1281075870 | 1.000 | 0.080 | 8 | 31142702 | splice donor variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs777096501 | 1.000 | 0.080 | 8 | 31088966 | splice donor variant | G/A;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
| rs763089663 | 1.000 | 0.080 | 8 | 31111747 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
| rs370324188 | 1.000 | 0.080 | 8 | 31068276 | stop gained | C/T | snv | 8.2E-06 | 7.0E-06 | 1 | |
| rs1244318419 | 1.000 | 0.080 | 8 | 31076199 | frameshift variant | AACA/- | delins | 1.2E-05 | 1.4E-05 | 1 |