Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| 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 | |||
| rs1057517286 | 1.000 | 0.120 | 17 | 80108606 | frameshift variant | T/- | del | 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 | |||
| rs1209887739 | 1.000 | 0.120 | 17 | 80113367 | splice donor variant | G/A;T | snv | 1 | |||
| rs121907940 | 1.000 | 0.120 | 17 | 80107837 | missense variant | T/C;G | snv | 1 | |||
| rs121907941 | 0.925 | 0.120 | 17 | 80110974 | missense variant | TC/GT | mnv | 1 | |||
| rs121907942 | 0.882 | 0.120 | 17 | 80111023 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs121907943 | 1.000 | 0.120 | 17 | 80118271 | stop gained | C/T | snv | 1.7E-04 | 6.2E-04 | 1 | |
| rs1344266804 | 1.000 | 0.120 | 17 | 80117675 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs140826989 | 1.000 | 0.120 | 17 | 80110837 | stop gained | G/A | snv | 4.0E-06 | 4.2E-05 | 1 | |
| rs1414146587 | 1.000 | 0.120 | 17 | 80112892 | missense variant | C/A;T | snv | 4.1E-06 | 1 | ||
| rs142752477 | 1.000 | 0.120 | 17 | 80108537 | missense variant | G/A;T | snv | 3.2E-05; 8.0E-06 | 1 | ||
| rs1428358278 | 1.000 | 0.120 | 17 | 80118712 | frameshift variant | G/- | del | 7.0E-06 | 1 | ||
| rs1434761678 | 1.000 | 0.120 | 17 | 80108830 | splice donor variant | T/C | snv | 5.0E-06 | 1 |