| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs138320978 | 0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 | 3 | ||
| rs151107532 | 0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 | 3 | |
| rs587777058 | 0.925 | 0.160 | 21 | 42485807 | splice region variant | G/T | snv | 2 | |||
| rs587777059 | 0.925 | 0.160 | 21 | 42485760 | frameshift variant | TACT/- | delins | 8.0E-06 | 2 | ||
| rs587777635 | 1.000 | 21 | 42486455 | stop gained | C/T | snv | 2 | ||||
| rs144037391 | 1.000 | 21 | 42486421 | stop gained | G/A;C | snv | 9.1E-05 | 3.4E-04 | 1 | ||
| rs587777060 | 1.000 | 21 | 42486428 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 |