| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 10 | |
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
| rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 1 | |
| rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
| rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 9 | |
| 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 | |||
| rs267607702 | 1.000 | 0.160 | 3 | 36993566 | frameshift variant | GTTATTCGGCGGCTGGA/- | del | 1 | |||
| rs587778996 | 1.000 | 0.160 | 3 | 36993568 | frameshift variant | -/A | delins | 1 | |||
| rs869312767 | 1.000 | 0.160 | 3 | 36993572 | stop gained | CG/TA | mnv | 2 | |||
| rs63749816 | 1.000 | 0.160 | 3 | 36993578 | frameshift variant | C/- | del | 1 | |||
| rs587779013 | 1.000 | 0.160 | 3 | 36993583 | frameshift variant | -/GA | delins | 1 | |||
| rs587779008 | 1.000 | 0.160 | 3 | 36993584 | stop gained | G/A;C;T | snv | 4.0E-06 | 3 | ||
| rs63750057 | 1.000 | 0.160 | 3 | 36993584 | frameshift variant | -/A;CCCA | delins | 2 | |||
| rs63750081 | 1.000 | 0.160 | 3 | 36993584 | frameshift variant | G/- | del | 1 | |||
| rs63751131 | 1.000 | 0.160 | 3 | 36993590 | frameshift variant | -/T | delins | 1 | |||
| rs63749804 | 1.000 | 0.160 | 3 | 36993598 | frameshift variant | C/- | delins | 1 | |||
| rs63750648 | 0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv | 3 | |||
| rs63750581 | 1.000 | 0.160 | 3 | 36993607 | frameshift variant | G/- | delins | 1 |