| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs752908306 | 15 | 28272372 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||||
| rs1704754 | 1 | 162790761 | 5 prime UTR variant | C/T | snv | 0.70 | 0.62 | 1 | |||
| rs146312682 | 3 | 45595642 | missense variant | A/C | snv | 8.6E-04 | 7.7E-04 | 1 | |||
| rs1057519737 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 1 | |||||
| rs587779003 | 3 | 37004401 | missense variant | G/A;C | snv | 1 | |||||
| rs1555458822 | 16 | 23614062 | frameshift variant | T/- | delins | 1 | |||||
| rs1555461693 | 16 | 23635903 | stop gained | C/A | snv | 1 | |||||
| rs121913285 | 3 | 179218286 | missense variant | C/G | snv | 1 | |||||
| rs1554897879 | 10 | 87931085 | stop gained | C/A | snv | 1 | |||||
| rs35766612 | 3 | 30672342 | missense variant | G/A;T | snv | 1.0E-03; 3.5E-04 | 1 | ||||
| rs1555526250 | 17 | 7675191 | frameshift variant | -/GGTCT | delins | 1 | |||||
| rs587782620 | 17 | 7675185 | missense variant | C/A;T | snv | 1 | |||||
| rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
| rs1060505051 | 1.000 | 17 | 43091883 | frameshift variant | AAGTT/- | delins | 2 | ||||
| rs1555581104 | 1.000 | 17 | 43071235 | frameshift variant | CC/- | delins | 2 | ||||
| rs1555599208 | 1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del | 2 | ||||
| rs397508940 | 1.000 | 17 | 43104958 | splice acceptor variant | T/C;G | snv | 2 | ||||
| rs397508983 | 1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 | 2 | |||
| rs397509160 | 1.000 | 17 | 43082474 | stop gained | G/A;T | snv | 2 | ||||
| rs80357167 | 1.000 | 17 | 43094066 | stop gained | C/A;T | snv | 2 | ||||
| rs80357243 | 17 | 43063885 | missense variant | A/C;G | snv | 2 | |||||
| rs80358146 | 1.000 | 17 | 43104957 | splice acceptor variant | C/A;T | snv | 2 | ||||
| rs886037784 | 1.000 | 17 | 43099803 | frameshift variant | A/- | del | 2 | ||||
| rs886037785 | 1.000 | 17 | 43091708 | frameshift variant | TACCT/- | delins | 2 | ||||
| rs886037786 | 1.000 | 17 | 43094231 | frameshift variant | -/G | delins | 2 |