Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1556488264 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 4 | |||
| rs761665644 | 0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 | 4 | ||
| rs1060499532 | 1.000 | 22 | 50526338 | missense variant | A/G | snv | 1 | ||||
| rs1060499533 | 1.000 | 22 | 50526293 | missense variant | A/G | snv | 1 | ||||
| rs1064792865 | 1.000 | 22 | 50527716 | start lost | A/C | snv | 1 | ||||
| rs1064792867 | 1.000 | 22 | 50527611 | missense variant | A/C | snv | 1 | ||||
| rs1064792868 | 1.000 | 22 | 50527223 | missense variant | A/G | snv | 1 | ||||
| rs1064792869 | 1.000 | 22 | 50527215 | missense variant | C/T | snv | 1 | ||||
| rs1064792870 | 1.000 | 22 | 50527170 | missense variant | T/G | snv | 7.0E-06 | 1 | |||
| rs1064792873 | 1.000 | 22 | 50526141 | missense variant | C/T | snv | 1 | ||||
| rs1064792874 | 1.000 | 22 | 50526019 | missense variant | C/T | snv | 1 | ||||
| rs1064792875 | 1.000 | 22 | 50525908 | stop gained | C/T | snv | 1 | ||||
| rs1064792876 | 1.000 | 22 | 50526575 | splice donor variant | C/G;T | snv | 1 | ||||
| rs1064792877 | 1.000 | 22 | 50526143 | splice acceptor variant | T/C;G | snv | 1 | ||||
| rs1064792878 | 1.000 | 22 | 50526000 | splice donor variant | C/T | snv | 7.0E-06 | 1 | |||
| rs1064792887 | 1.000 | 22 | 50527210 | frameshift variant | G/- | delins | 1 | ||||
| rs1064792888 | 1.000 | 22 | 50526720 | frameshift variant | G/- | delins | 1 | ||||
| rs1064792889 | 1.000 | 22 | 50525908 | frameshift variant | C/- | delins | 1 | ||||
| rs11479 | 0.925 | 0.080 | 22 | 50525807 | stop gained | G/A;C;T | snv | 0.13; 1.3E-05; 4.3E-06 | 1 | ||
| rs121913036 | 1.000 | 22 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 | 1 | ||
| rs1471478620 | 1.000 | 22 | 50525910 | frameshift variant | -/G | delins | 1 | ||||
| rs149977726 | 1.000 | 22 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 | 1 | ||
| rs1556486029 | 1.000 | 22 | 50525867 | frameshift variant | -/G | delins | 1 | ||||
| rs1556486107 | 1.000 | 22 | 50525898 | frameshift variant | -/C | delins | 1 | ||||
| rs1556486467 | 1.000 | 22 | 50526089 | frameshift variant | -/A | delins | 1 |