| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs3802842 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 25 | ||
| rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
| rs1380087059 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 3 | ||
| rs587781394 | 0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 | ||
| rs758712508 | 0.925 | 0.160 | 5 | 112838286 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
| rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
| rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
| rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs2075786 | 0.790 | 0.360 | 5 | 1266195 | intron variant | A/G | snv | 0.55 | 8 | ||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs1172901314 | 0.851 | 0.160 | 10 | 17833714 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
| rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
| rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
| rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
| rs143969848 | 0.925 | 0.160 | 3 | 36958902 | TF binding site variant | G/A | snv | 9.8E-03 | 4 | ||
| rs41285097 | 0.925 | 0.160 | 3 | 36993506 | 5 prime UTR variant | C/G;T | snv | 4.4E-05 | 2 | ||
| rs111052004 | 0.925 | 0.160 | 3 | 36993549 | start lost | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs72481822 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 4 | |||
| rs587779029 | 1.000 | 0.160 | 3 | 36993552 | stop gained | C/A;T | snv | 2.8E-05 | 1 | ||
| rs63750745 | 1.000 | 0.160 | 3 | 36993556 | frameshift variant | C/- | del | 1 | |||
| rs63751891 | 1.000 | 0.160 | 3 | 36993559 | frameshift variant | AGGGGTTATTCGGC/- | delins | 1 | |||
| rs63751892 | 1.000 | 0.160 | 3 | 36993563 | frameshift variant | GGTTATTCGGCGGCTGG/- | delins | 1 |