| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1064795341 | 3 | 36993553 | frameshift variant | CGTGGCAGGGGTT/- | delins | 1 | |||||
| rs1389945622 | 3 | 36993560 | missense variant | G/A;C | snv | 1 | |||||
| rs1553637196 | 3 | 36993579 | frameshift variant | -/G | delins | 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 | |||
| rs63749994 | 1.000 | 0.080 | 3 | 36993638 | missense variant | GC/TG | mnv | 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 | |||
| rs759680369 | 3 | 36993574 | synonymous variant | G/A;C;T | snv | 8.0E-06 | 1 | ||||
| rs779759678 | 1.000 | 0.040 | 3 | 36993556 | missense variant | C/G | snv | 4.0E-06 | 3.5E-05 | 1 | |
| rs1057517543 | 1.000 | 0.080 | 3 | 37000954 | splice region variant | AAGAAGATCTGGA/- | delins | 1 | |||
| rs1057517617 | 1.000 | 0.080 | 3 | 37026007 | splice donor variant | GTATGG/- | delins | 1 | |||
| rs1060500687 | 3 | 37047639 | frameshift variant | AA/A;AAA;G | delins | 1 | |||||
| rs1060500688 | 3 | 37001014 | frameshift variant | G/- | delins | 1 | |||||
| rs1060500689 | 3 | 37007000 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||||
| rs1060500692 | 3 | 37025668 | frameshift variant | GAGATGG/- | delins | 1 |