| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554840869 | 0.925 | 0.160 | 10 | 102504322 | frameshift variant | -/C | delins | 2 | |||
| rs863224925 | 1.000 | 0.040 | 10 | 102504263 | frameshift variant | C/- | del | 1 | |||
| rs1400239417 | 0.882 | 0.040 | 2 | 29220756 | missense variant | T/A;G | snv | 4.0E-06 | 2.1E-05 | 4 | |
| rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
| rs1057517558 | 0.882 | 0.120 | 5 | 112839549 | frameshift variant | C/- | delins | 3 | |||
| rs387906238 | 0.925 | 0.120 | 5 | 112819224 | frameshift variant | AA/- | del | 2 | |||
| rs1291513037 | 1.000 | 0.040 | 5 | 112839481 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs878853445 | 1.000 | 0.040 | 5 | 112840008 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
| rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
| rs139209450 | 1.000 | 0.040 | 17 | 65535650 | missense variant | G/A | snv | 1.0E-03 | 3.0E-04 | 1 | |
| rs749846538 | 1.000 | 0.040 | 17 | 65537814 | missense variant | C/T | snv | 6.7E-05 | 4.2E-05 | 1 | |
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
| rs41293497 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 14 | ||
| rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 14 | ||
| rs80358920 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 14 | |||
| rs80358814 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 12 | ||
| rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 12 | ||
| rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
| rs28897756 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 11 | ||
| rs80358435 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 11 | ||
| rs80359212 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 11 | |
| rs397507404 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 10 | |||
| rs41293511 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 10 |