| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587780059 | 0.882 | 0.200 | 7 | 6009018 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 5 | ||
| rs1554308880 | 1.000 | 0.160 | 7 | 6008969 | intron variant | CACCGGAA/- | delins | 1 | |||
| rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 10 | |
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
| rs863224453 | 1.000 | 0.160 | 2 | 47385165 | splice acceptor variant | G/A | snv | 1 | |||
| rs63751012 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 4 | |||
| rs72481822 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 4 | |||
| rs121912965 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 3 | |||
| rs267607709 | 0.925 | 0.160 | 3 | 36993664 | splice donor variant | G/A;T | snv | 3 | |||
| rs267607710 | 1.000 | 0.160 | 3 | 36993668 | missense variant | G/A;C | snv | 2.8E-05 | 3 | ||
| rs63750648 | 0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv | 3 | |||
| rs63750792 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 3 | |||
| rs63750822 | 1.000 | 0.160 | 3 | 36993610 | frameshift variant | G/-;GG | delins | 3 | |||
| rs267607706 | 0.882 | 0.160 | 3 | 36993661 | missense variant | C/A;G;T | snv | 4.0E-06 | 2 | ||
| rs41285097 | 0.925 | 0.160 | 3 | 36993506 | 5 prime UTR variant | C/G;T | snv | 4.4E-05 | 2 | ||
| rs587778888 | 1.000 | 0.160 | 3 | 36993660 | missense variant | A/C;G | snv | 2 | |||
| rs63750057 | 1.000 | 0.160 | 3 | 36993584 | frameshift variant | -/A;CCCA | delins | 2 | |||
| rs1559500884 | 1.000 | 0.160 | 3 | 36993647 | missense variant | G/A | snv | 1 | |||
| rs587778882 | 1.000 | 0.160 | 3 | 36993651 | frameshift variant | -/AA | ins | 1 | |||
| rs587778996 | 1.000 | 0.160 | 3 | 36993568 | frameshift variant | -/A | delins | 1 | |||
| rs587779013 | 1.000 | 0.160 | 3 | 36993583 | frameshift variant | -/GA | delins | 1 | |||
| rs587779040 | 1.000 | 0.160 | 3 | 36993625 | frameshift variant | G/- | del | 1 | |||
| rs63749804 | 1.000 | 0.160 | 3 | 36993598 | frameshift variant | C/- | delins | 1 | |||
| rs63749813 | 1.000 | 0.160 | 3 | 36993646 | frameshift variant | GA/- | delins | 1 |