| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
| rs781049584 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 18 | |
| 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 | |||
| rs587779349 | 0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins | 8 | |||
| rs9344 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 34 | |
| rs759338099 | 0.925 | 0.160 | 7 | 92833212 | missense variant | G/C | snv | 4.1E-06 | 2 | ||
| rs1801270 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 22 | ||
| rs1059234 | 0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 | 10 | |
| rs1375421660 | 1.000 | 0.080 | 14 | 45188848 | frameshift variant | AT/- | del | 4.0E-06 | 1 | ||
| rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
| rs11801299 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 9 | ||
| rs587776783 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 5 | |||
| rs121913300 | 1.000 | 0.080 | 13 | 48367512 | stop gained | C/G;T | snv | 1.2E-05 | 2 | ||
| rs121913301 | 1.000 | 0.080 | 13 | 48368549 | stop gained | C/T | snv | 2 | |||
| rs398123331 | 1.000 | 0.080 | 13 | 48380062 | stop gained | C/A;G;T | snv | 7.6E-06 | 2 | ||
| rs587776782 | 1.000 | 0.080 | 13 | 48367604 | splice donor variant | G/A;T | snv | 2 | |||
| rs587776788 | 1.000 | 0.080 | 13 | 48380179 | inframe deletion | ACA/- | delins | 2 | |||
| rs587778844 | 1.000 | 0.080 | 13 | 48367575 | frameshift variant | A/- | delins | 2 | |||
| rs587781256 | 1.000 | 0.080 | 13 | 48380087 | intron variant | ACTTTTAGTAAAAAATTTTTT/- | delins | 2 | |||
| rs1050717570 | 1.000 | 0.080 | 13 | 48381393 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs1060503074 | 1.000 | 0.080 | 13 | 48373494 | splice donor variant | T/G | snv | 1 | |||
| rs1060503077 | 1.000 | 0.080 | 13 | 48367521 | stop gained | G/T | snv | 1 | |||
| rs1060503087 | 1.000 | 0.080 | 13 | 48379651 | splice donor variant | G/T | snv | 1 | |||
| rs1258442224 | 1.000 | 0.080 | 13 | 48381245 | splice acceptor variant | A/C;T | snv | 8.6E-06 | 1 |