| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 | |
| rs104893746 | 0.851 | 0.120 | 3 | 69956460 | stop gained | C/T | snv | 6 | |||
| rs1559751245 | 0.882 | 0.280 | 3 | 69959280 | missense variant | C/G | snv | 6 | |||
| rs147682682 | 1.000 | 0.040 | 3 | 69956496 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 | 4 | |
| rs1559749017 | 0.925 | 0.040 | 3 | 69956531 | splice donor variant | G/A | snv | 4 | |||
| rs1057517966 | 0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv | 3 | |||
| rs1057519325 | 0.925 | 0.040 | 3 | 69951870 | missense variant | G/C | snv | 2 | |||
| rs1057519326 | 0.925 | 0.040 | 3 | 69956469 | missense variant | A/G | snv | 2 | |||
| rs1057519327 | 0.925 | 0.040 | 3 | 69956454 | splice acceptor variant | G/A | snv | 2 | |||
| rs1553704086 | 0.925 | 0.280 | 3 | 69951856 | missense variant | G/A | snv | 2 | |||
| rs864309655 | 1.000 | 0.040 | 12 | 88518750 | missense variant | G/C | snv | 1 | |||
| rs104893744 | 1.000 | 0.040 | 3 | 69959310 | missense variant | T/C | snv | 1 | |||
| rs104893747 | 1.000 | 0.040 | 3 | 69964880 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 | 1 | |
| rs1553701477 | 1.000 | 0.040 | 3 | 69936756 | splice donor variant | G/A | snv | 1 | |||
| rs1553702006 | 1.000 | 0.040 | 3 | 69939164 | stop gained | C/T | snv | 1 | |||
| rs1553702406 | 1.000 | 0.040 | 3 | 69941299 | missense variant | TT/CC | mnv | 1 | |||
| rs1553703612 | 1.000 | 0.040 | 3 | 69949049 | splice acceptor variant | A/C | snv | 1 | |||
| rs1553704097 | 1.000 | 0.040 | 3 | 69951884 | missense variant | T/C | snv | 1 | |||
| rs1553704850 | 1.000 | 0.040 | 3 | 69956534 | splice region variant | A/C | snv | 1 | |||
| rs1553705282 | 1.000 | 0.040 | 3 | 69959386 | frameshift variant | A/- | del | 1 | |||
| rs767012978 | 1.000 | 0.040 | 3 | 69959416 | missense variant | T/G | snv | 8.0E-06 | 1 | ||
| rs878853234 | 1.000 | 0.040 | 3 | 69964874 | frameshift variant | G/- | delins | 1 | |||
| rs1555939415 | 1.000 | 0.040 | 22 | 37983382 | missense variant | T/G | snv | 1 | |||
| rs1555937398 | 1.000 | 0.040 | 22 | 37973805 | frameshift variant | T/- | del | 1 | |||
| rs1555938422 | 1.000 | 0.040 | 22 | 37978134 | frameshift variant | G/- | del | 1 |