| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518731 | 0.807 | 0.280 | 17 | 63833908 | splice donor variant | C/T | snv | 7 | |||
| rs1057518733 | 0.807 | 0.280 | 17 | 63837439 | splice donor variant | A/G | snv | 7 | |||
| rs1555580263 | 0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins | 6 | |||
| rs760325316 | 1.000 | 0.040 | 14 | 23118701 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
| rs758858068 | 1.000 | 0.040 | 14 | 64225321 | missense variant | T/A;C;G | snv | 3.2E-05; 4.0E-06 | 1 | ||
| rs763585589 | 1.000 | 0.040 | 14 | 64219304 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 |