| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554308880 | 1.000 | 0.160 | 7 | 6008969 | intron variant | CACCGGAA/- | delins | 1 | |||
| rs863224453 | 1.000 | 0.160 | 2 | 47385165 | splice acceptor variant | G/A | snv | 1 | |||
| 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 | |||
| rs63749828 | 1.000 | 0.160 | 3 | 36993622 | frameshift variant | C/- | delins | 1 | |||
| rs63749839 | 1.000 | 0.160 | 3 | 36993620 | frameshift variant | A/- | del | 1 | |||
| rs63750081 | 1.000 | 0.160 | 3 | 36993584 | frameshift variant | G/- | del | 1 | |||
| rs63750581 | 1.000 | 0.160 | 3 | 36993607 | frameshift variant | G/- | delins | 1 | |||
| rs63750745 | 1.000 | 0.160 | 3 | 36993556 | frameshift variant | C/- | del | 1 | |||
| rs63751892 | 1.000 | 0.160 | 3 | 36993563 | frameshift variant | GGTTATTCGGCGGCTGG/- | delins | 1 | |||
| rs1064793600 | 1.000 | 0.160 | 2 | 47799597 | inframe deletion | CTT/- | delins | 7.0E-06 | 1 | ||
| rs1251033858 | 1.000 | 0.160 | 2 | 47799235 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
| rs1333555322 | 1.000 | 0.160 | 2 | 47799976 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
| rs1553332772 | 1.000 | 0.160 | 2 | 47805708 | splice donor variant | G/T | snv | 1 | |||
| rs1553332996 | 1.000 | 0.160 | 2 | 47806234 | stop gained | -/AATAGCAAATGCAGTTGTTAAAGAACTTG | delins | 1 | |||
| rs1553333584 | 1.000 | 0.160 | 2 | 47806566 | stop gained | -/CTAATCTCCCAGAGGAAGTTAT | delins | 1 | |||
| rs1553333594 | 1.000 | 0.160 | 2 | 47806567 | frameshift variant | -/T | delins | 1 | |||
| rs1553333707 | 1.000 | 0.160 | 2 | 47806614 | stop gained | G/A;T | snv | 1 | |||
| rs1558663559 | 1.000 | 0.160 | 2 | 47799914 | frameshift variant | G/- | delins | 1 | |||
| rs1558664335 | 1.000 | 0.160 | 2 | 47800105 | stop gained | -/ATA | delins | 1 |