Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1055945806 | 1.000 | 0.120 | 17 | 80104552 | splice region variant | C/A;T | snv | 1 | |||
| rs1057516189 | 1.000 | 0.120 | 17 | 80118706 | frameshift variant | -/CAGAAGGTGACTG | delins | 1 | |||
| rs1057516215 | 1.000 | 0.120 | 17 | 80108609 | splice donor variant | T/C | snv | 1 | |||
| rs1057516251 | 1.000 | 0.120 | 17 | 80104755 | stop gained | C/T | snv | 1 | |||
| rs1057516277 | 1.000 | 0.120 | 17 | 80117005 | stop gained | C/T | snv | 1 | |||
| rs1057516290 | 1.000 | 0.120 | 17 | 80108487 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516327 | 1.000 | 0.120 | 17 | 80116991 | stop gained | G/A | snv | 1 | |||
| rs1057516328 | 1.000 | 0.120 | 17 | 80116992 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs1057516341 | 1.000 | 0.120 | 17 | 80118710 | stop gained | C/T | snv | 1 | |||
| rs1057516363 | 1.000 | 0.120 | 17 | 80117020 | stop gained | G/T | snv | 1 | |||
| rs1057516426 | 1.000 | 0.120 | 17 | 80112033 | stop gained | C/T | snv | 1 | |||
| rs1057516503 | 1.000 | 0.120 | 17 | 80104867 | frameshift variant | CT/- | del | 1 | |||
| rs1057516520 | 1.000 | 0.120 | 17 | 80108528 | missense variant | A/T | snv | 1 | |||
| rs1057516546 | 1.000 | 0.120 | 17 | 80108601 | frameshift variant | C/-;CC | delins | 1 | |||
| rs1057516581 | 1.000 | 0.120 | 17 | 80113361 | frameshift variant | C/- | delins | 1 | |||
| rs1057516600 | 1.000 | 0.120 | 17 | 80107816 | missense variant | A/G | snv | 8.1E-06 | 1.4E-05 | 1 | |
| rs1057516704 | 1.000 | 0.120 | 17 | 80118204 | frameshift variant | CA/- | delins | 1 | |||
| rs1057516785 | 1.000 | 0.120 | 17 | 80108512 | frameshift variant | T/- | del | 1 | |||
| rs1057516826 | 1.000 | 0.120 | 17 | 80112644 | frameshift variant | -/ATACG | delins | 1 | |||
| rs1057516924 | 1.000 | 0.120 | 17 | 80117059 | frameshift variant | G/AT | delins | 1 | |||
| rs1057516928 | 1.000 | 0.120 | 17 | 80113028 | splice donor variant | G/T | snv | 7.0E-06 | 1 | ||
| rs1057517105 | 0.882 | 0.160 | 17 | 80112655 | missense variant | G/A | snv | 1 | |||
| rs1057517148 | 1.000 | 0.120 | 17 | 80117111 | splice donor variant | T/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1057517165 | 1.000 | 0.120 | 17 | 80104816 | frameshift variant | CCACACAGTGC/- | delins | 1 | |||
| rs1057517267 | 1.000 | 0.120 | 17 | 80110955 | frameshift variant | T/- | delins | 1 |