Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1475559733 | 1.000 | 0.120 | 17 | 80112669 | frameshift variant | -/A | delins | 1 | |||
| rs1555602860 | 1.000 | 0.120 | 17 | 80117634 | frameshift variant | -/A | delins | 1 | |||
| rs730880372 | 1.000 | 0.120 | 17 | 80113254 | frameshift variant | -/A | delins | 1 | |||
| rs786204727 | 1.000 | 0.120 | 17 | 80112648 | stop gained | -/A | delins | 1.4E-05 | 1 | ||
| rs1057516826 | 1.000 | 0.120 | 17 | 80112644 | frameshift variant | -/ATACG | delins | 1 | |||
| rs1555599637 | 1.000 | 0.120 | 17 | 80107630 | frameshift variant | -/C | ins | 1 | |||
| rs1057516189 | 1.000 | 0.120 | 17 | 80118706 | frameshift variant | -/CAGAAGGTGACTG | delins | 1 | |||
| rs1555598880 | 1.000 | 0.120 | 17 | 80105032 | frameshift variant | -/G | delins | 1 | |||
| rs1555601802 | 1.000 | 0.120 | 17 | 80113333 | frameshift variant | -/G | delins | 1 | |||
| rs1555599586 | 1.000 | 0.120 | 17 | 80107572 | frameshift variant | -/GC | delins | 1 | |||
| rs1555599619 | 1.000 | 0.120 | 17 | 80107618 | frameshift variant | -/T | delins | 1 | |||
| rs1555599644 | 1.000 | 0.120 | 17 | 80107631 | frameshift variant | -/T | delins | 1 | |||
| rs1555603131 | 1.000 | 0.120 | 17 | 80118327 | frameshift variant | -/T | delins | 1 | |||
| rs996798292 | 1.000 | 0.120 | 17 | 80108793 | frameshift variant | -/TGCA | delins | 4.3E-06 | 7.0E-06 | 1 | |
| rs560575383 | 1.000 | 0.120 | 17 | 80108724 | missense variant | A/C;G;T | snv | 8.1E-06 | 1 | ||
| rs1057516290 | 1.000 | 0.120 | 17 | 80108487 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516600 | 1.000 | 0.120 | 17 | 80107816 | missense variant | A/G | snv | 8.1E-06 | 1.4E-05 | 1 | |
| rs1555600730 | 1.000 | 0.120 | 17 | 80110725 | splice acceptor variant | A/G | snv | 1 | |||
| rs1555600846 | 1.000 | 0.120 | 17 | 80110939 | splice acceptor variant | A/G | snv | 1 | |||
| rs786204467 | 1.000 | 0.120 | 17 | 80104587 | start lost | A/G | snv | 7.0E-06 | 1 | ||
| rs1057516520 | 1.000 | 0.120 | 17 | 80108528 | missense variant | A/T | snv | 1 | |||
| rs786204621 | 1.000 | 0.120 | 17 | 80113008 | inframe deletion | ACA/- | delins | 1 | |||
| rs1057516581 | 1.000 | 0.120 | 17 | 80113361 | frameshift variant | C/- | delins | 1 | |||
| rs1057517320 | 1.000 | 0.120 | 17 | 80105053 | frameshift variant | C/- | delins | 1 | |||
| rs1057517381 | 1.000 | 0.120 | 17 | 80104977 | frameshift variant | C/- | delins | 1 |