Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs574552037 | 1.000 | 0.120 | 17 | 61716043 | stop gained | G/A;C | snv | 3.3E-04; 2.4E-05; 4.0E-06 | 2 | ||
| rs137852986 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 9 | |
| rs753683450 | 17 | 61683605 | frameshift variant | -/T | delins | 8.0E-05 | 4.2E-05 | 1 | |||
| rs752780954 | 0.925 | 0.200 | 17 | 61686008 | frameshift variant | -/A | delins | 4.8E-05 | 1.4E-05 | 3 | |
| rs778664039 | 0.925 | 0.240 | 17 | 61683653 | frameshift variant | AGAT/- | delins | 3.6E-05 | 7.0E-06 | 3 | |
| rs775171520 | 0.882 | 0.280 | 17 | 61793727 | stop gained | C/A;T | snv | 2.4E-05 | 4 | ||
| rs730881645 | 0.882 | 0.280 | 17 | 61683850 | frameshift variant | A/- | del | 2.0E-05 | 5.6E-05 | 4 | |
| rs587781321 | 0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 | 4 | ||
| rs780020495 | 0.882 | 0.240 | 17 | 61780893 | stop gained | G/A | snv | 2.0E-05 | 4 | ||
| rs587780240 | 1.000 | 0.120 | 17 | 61715948 | splice donor variant | -/A | delins | 1.6E-05 | 2.8E-05 | 2 | |
| rs779466229 | 0.925 | 0.200 | 17 | 61808752 | frameshift variant | A/- | del | 1.6E-05 | 3 | ||
| rs587781655 | 1.000 | 0.120 | 17 | 61808466 | splice donor variant | C/T | snv | 1.6E-05 | 5.6E-05 | 2 | |
| rs786203717 | 0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 | 3 | |
| rs149364097 | 0.925 | 0.120 | 17 | 61801348 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
| rs730881649 | 0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 | 4 | |
| rs587780226 | 0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 | 4 | ||
| rs752309409 | 17 | 61808634 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |||
| rs760551339 | 1.000 | 0.120 | 17 | 61686054 | frameshift variant | GGAT/- | delins | 1.2E-05 | 1.4E-05 | 2 | |
| rs575595017 | 0.882 | 0.280 | 17 | 61859808 | stop gained | G/A | snv | 1.2E-05 | 4 | ||
| rs587782410 | 0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 | 4 | |
| rs777367075 | 17 | 61683520 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 1 | |||
| rs587781416 | 1.000 | 0.120 | 17 | 61849241 | frameshift variant | -/T | delins | 8.0E-06; 4.0E-06 | 7.0E-06 | 2 | |
| rs587780236 | 0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 4 | |
| rs775537066 | 0.925 | 0.200 | 17 | 61776487 | frameshift variant | -/A | delins | 8.0E-06 | 2.1E-05 | 3 | |
| rs747604569 | 0.925 | 0.280 | 17 | 61849152 | stop gained | G/A;T | snv | 8.0E-06 | 3 |