| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
| rs748106387 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 9 | ||
| rs864309531 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 5 | |||
| rs119473037 | 1.000 | 0.280 | 2 | 216450927 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs761546902 | 1.000 | 0.280 | 2 | 216420297 | splice acceptor variant | A/G | snv | 1.2E-04 | 4.2E-05 | 1 | |
| rs149425324 | 1.000 | 0.280 | 2 | 216475345 | stop gained | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 1 | ||
| rs267607071 | 0.925 | 0.320 | 2 | 216475315 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs1553526162 | 1.000 | 0.280 | 2 | 216432766 | inframe insertion | -/CTGGGG | delins | 1 | |||
| rs119473036 | 1.000 | 0.280 | 2 | 216435495 | missense variant | T/A;C | snv | 1 | |||
| rs119473035 | 1.000 | 0.280 | 2 | 216414804 | stop gained | C/T | snv | 1 | |||
| rs119473038 | 1.000 | 0.280 | 2 | 216447063 | missense variant | C/T | snv | 8.0E-06 | 1.5E-05 | 1 | |
| rs119473034 | 1.000 | 0.280 | 2 | 216414753 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
| rs766291662 | 1.000 | 0.280 | 2 | 216428638 | frameshift variant | T/- | del | 5.6E-05 | 1 | ||
| rs1559138455 | 1.000 | 0.280 | 2 | 216475452 | splice donor variant | G/A | snv | 1 | |||
| rs1553535161 | 1.000 | 0.280 | 2 | 216478244 | missense variant | G/A | snv | 1 |