| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1114167828 | 1.000 | 0.160 | 2 | 47480696 | frameshift variant | GT/- | delins | 2 | |||
| rs1114167852 | 1.000 | 0.160 | 2 | 47463155 | splice donor variant | G/A | snv | 4.0E-06 | 2 | ||
| rs1114167883 | 1.000 | 0.160 | 2 | 47403403 | splice donor variant | G/T | snv | 3 | |||
| rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs11541859 | 1.000 | 0.160 | 3 | 37001012 | stop gained | G/T | snv | 1 | |||
| rs1172901314 | 0.851 | 0.160 | 10 | 17833714 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
| rs121434629 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 13 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs121912965 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 3 | |||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs1230083633 | 1.000 | 0.160 | 2 | 47482800 | stop gained | G/A;C;T | snv | 8.0E-06 | 2 | ||
| rs1244531716 | 1.000 | 0.160 | 2 | 47799422 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
| rs12476364 | 1.000 | 0.160 | 2 | 47416295 | splice acceptor variant | G/A;C;T | snv | 3 | |||
| rs1251033858 | 1.000 | 0.160 | 2 | 47799235 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
| rs1260021106 | 0.925 | 0.160 | 3 | 37025645 | missense variant | A/G | snv | 1.6E-05 | 2 | ||
| rs1278858560 | 1.000 | 0.160 | 2 | 47478521 | splice donor variant | T/C | snv | 7.0E-06 | 1 | ||
| rs12947788 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 8 | ||
| rs1316409501 | 1.000 | 0.160 | 2 | 47803663 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs1333555322 | 1.000 | 0.160 | 2 | 47799976 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
| rs1380087059 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 3 | ||
| rs1392665848 | 0.925 | 0.160 | 3 | 37025865 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
| rs141577476 | 1.000 | 0.160 | 7 | 6005967 | stop gained | G/A;T | snv | 1.2E-05 | 3 | ||
| rs1416452389 | 1.000 | 0.160 | 2 | 47806590 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
| rs1418586322 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 6 |