| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918467 | 0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 23 | ||
| rs137854466 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 23 | ||
| rs112550005 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 18 | |||
| rs1443187318 | 0.882 | 0.080 | 7 | 44108060 | stop gained | -/A | delins | 1.3E-05 | 14 | ||
| rs1057518871 | 0.925 | 0.120 | 9 | 134798410 | frameshift variant | C/- | delins | 10 | |||
| rs1555398397 | 0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv | 10 | |||
| rs1553517323 | 1.000 | 2 | 189085204 | missense variant | C/A | snv | 4 | ||||
| rs1554726245 | 9 | 134834982 | inframe deletion | ACGCCGAGG/- | delins | 4 |