Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908889 | 1.000 | 0.160 | 5 | 132384155 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs121908890 | 1.000 | 0.160 | 5 | 132384154 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs121908891 | 1.000 | 0.160 | 5 | 132390833 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs121908893 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 1 | ||
| rs144547521 | 1.000 | 0.160 | 5 | 132390830 | missense variant | C/T | snv | 8.0E-05 | 6.3E-05 | 1 | |
| rs151231558 | 1.000 | 0.160 | 5 | 132378408 | missense variant | G/A;T | snv | 1.2E-05; 5.6E-05 | 1 | ||
| rs1554087461 | 1.000 | 0.160 | 5 | 132385327 | frameshift variant | -/TATGGCCATCAGGTTGGAG | delins | 1 | |||
| rs1554087491 | 1.000 | 0.160 | 5 | 132385429 | frameshift variant | T/- | delins | 1 | |||
| rs1554087719 | 1.000 | 0.160 | 5 | 132387081 | frameshift variant | A/- | del | 1 | |||
| rs1554087913 | 1.000 | 0.160 | 5 | 132388919 | splice acceptor variant | A/G | snv | 1 | |||
| rs1554087949 | 1.000 | 0.160 | 5 | 132389022 | splice donor variant | G/T | snv | 1 | |||
| rs1554088165 | 1.000 | 0.160 | 5 | 132390809 | stop gained | G/A | snv | 1 | |||
| rs1554088200 | 1.000 | 0.160 | 5 | 132390905 | splice donor variant | G/A | snv | 1 | |||
| rs1554088578 | 1.000 | 0.160 | 5 | 132393779 | frameshift variant | A/- | del | 1 | |||
| rs1561566541 | 1.000 | 0.160 | 5 | 132378237 | splice donor variant | T/C | snv | 1 | |||
| rs185551386 | 1.000 | 0.160 | 5 | 132385355 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 1 | |
| rs267607053 | 1.000 | 0.160 | 5 | 132392489 | missense variant | GC/AT | mnv | 1 | |||
| rs267607054 | 1.000 | 0.160 | 5 | 132390832 | missense variant | C/T | snv | 1.2E-04 | 2.1E-05 | 1 | |
| rs28383481 | 1.000 | 0.160 | 5 | 132393688 | missense variant | G/A | snv | 3.2E-03 | 3.4E-03 | 1 | |
| rs386134194 | 1.000 | 0.160 | 5 | 132378437 | synonymous variant | G/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
| rs386134195 | 1.000 | 0.160 | 5 | 132378439 | frameshift variant | TG/- | delins | 1 | |||
| rs386134199 | 1.000 | 0.160 | 5 | 132384290 | missense variant | C/T | snv | 7.2E-04 | 1.8E-04 | 1 | |
| rs386134200 | 1.000 | 0.160 | 5 | 132384302 | splice donor variant | G/A;T | snv | 1.2E-05 | 1 | ||
| rs386134201 | 1.000 | 0.160 | 5 | 132385326 | splice acceptor variant | A/C | snv | 1 | |||
| rs386134204 | 1.000 | 0.160 | 5 | 132385481 | frameshift variant | T/- | del | 8.0E-06 | 7.0E-06 | 1 |