Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517267 | 1.000 | 0.120 | 17 | 80110955 | frameshift variant | T/- | 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 | |||
| rs1207988953 | 1.000 | 0.120 | 17 | 80104964 | frameshift variant | TG/- | delins | 1 | |||
| rs1475559733 | 1.000 | 0.120 | 17 | 80112669 | frameshift variant | -/A | delins | 1 | |||
| rs1555598880 | 1.000 | 0.120 | 17 | 80105032 | 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 | |||
| rs1555600111 | 1.000 | 0.120 | 17 | 80108577 | frameshift variant | G/- | delins | 1 | |||
| rs1555601662 | 1.000 | 0.120 | 17 | 80113027 | splice donor variant | G/- | delins | 1 | |||
| rs1555601780 | 1.000 | 0.120 | 17 | 80113312 | frameshift variant | GT/- | delins | 1 | |||
| rs1555601802 | 1.000 | 0.120 | 17 | 80113333 | frameshift variant | -/G | delins | 1 | |||
| rs1555602692 | 1.000 | 0.120 | 17 | 80117077 | frameshift variant | T/- | delins | 1 | |||
| rs1555602860 | 1.000 | 0.120 | 17 | 80117634 | frameshift variant | -/A | delins | 1 | |||
| rs1555603048 | 1.000 | 0.120 | 17 | 80118193 | splice donor variant | GCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATG/- | delins | 1 | |||
| rs1555603131 | 1.000 | 0.120 | 17 | 80118327 | frameshift variant | -/T | delins | 1 | |||
| rs1555603216 | 1.000 | 0.120 | 17 | 80118651 | splice acceptor variant | GAA/- | delins | 1 | |||
| rs1555603434 | 1.000 | 0.120 | 17 | 80119324 | frameshift variant | G/- | delins | 1 | |||
| rs1567835775 | 1.000 | 0.120 | 17 | 80112937 | frameshift variant | G/- | delins | 1 | |||
| rs1567835781 | 1.000 | 0.120 | 17 | 80112938 | frameshift variant | GG/T | delins | 1 | |||
| rs730880372 | 1.000 | 0.120 | 17 | 80113254 | frameshift variant | -/A | delins | 1 | |||
| rs757458607 | 1.000 | 0.120 | 17 | 80108555 | frameshift variant | C/- | delins | 4.0E-06 | 1 | ||
| rs761317813 | 1.000 | 0.120 | 17 | 80104838 | frameshift variant | C/-;CC | delins | 1 | |||
| rs763359208 | 1.000 | 0.120 | 17 | 80119284 | frameshift variant | GT/- | delins | 1.2E-05 | 1 |