Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555574411 | 1.000 | 17 | 43045749 | coding sequence variant | -/TCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAG | delins | 1 | ||||
| rs1555574414 | 1.000 | 17 | 43045752 | frameshift variant | C/- | delins | 1 | ||||
| rs1555574436 | 1.000 | 17 | 43045774 | frameshift variant | -/AA | delins | 1 | ||||
| rs1555574698 | 1.000 | 17 | 43047643 | frameshift variant | -/A | delins | 1 | ||||
| rs1555574722 | 1.000 | 17 | 43047679 | frameshift variant | -/TC | ins | 1 | ||||
| rs1555574977 | 1.000 | 17 | 43048721 | splice donor variant | GTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAAT/- | delins | 1 | ||||
| rs1555575109 | 1.000 | 17 | 43049140 | splice acceptor variant | GAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTAC/- | del | 1 | ||||
| rs1555576840 | 1.000 | 17 | 43057059 | frameshift variant | -/G | ins | 1 | ||||
| rs1555576871 | 1.000 | 17 | 43057080 | frameshift variant | -/GA | ins | 1 | ||||
| rs1555576878 | 1.000 | 17 | 43057081 | frameshift variant | -/GA | ins | 1 | ||||
| rs1555576907 | 1.000 | 17 | 43057092 | frameshift variant | T/- | del | 1 | ||||
| rs1555576964 | 1.000 | 17 | 43057118 | frameshift variant | -/G | ins | 1 | ||||
| rs1555576982 | 1.000 | 17 | 43057127 | frameshift variant | -/G | ins | 1 | ||||
| rs1555578376 | 1.000 | 17 | 43063360 | frameshift variant | -/G | delins | 1 | ||||
| rs1555578407 | 1.000 | 17 | 43063369 | frameshift variant | -/TATT | ins | 1 | ||||
| rs1555578542 | 1.000 | 17 | 43063877 | frameshift variant | -/G | ins | 1 | ||||
| rs1555578613 | 1.000 | 17 | 43063924 | frameshift variant | A/- | del | 1 | ||||
| rs1555578648 | 1.000 | 17 | 43063941 | frameshift variant | -/C | ins | 1 | ||||
| rs1555579598 | 1.000 | 17 | 43067608 | splice acceptor variant | TTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTG/- | delins | 1 | ||||
| rs1555579630 | 1.000 | 17 | 43067622 | frameshift variant | -/GTTG | ins | 1 | ||||
| rs1555579675 | 1.000 | 17 | 43067638 | stop gained | -/TTAA | delins | 1 | ||||
| rs1555579686 | 1.000 | 17 | 43067640 | frameshift variant | -/ATTA | delins | 1 | ||||
| rs1555579738 | 1.000 | 17 | 43067673 | frameshift variant | -/G | ins | 1 | ||||
| rs1555579747 | 1.000 | 17 | 43067674 | frameshift variant | -/GGCAAACTTGTAC | delins | 1 | ||||
| rs1555580648 | 1.000 | 17 | 43070973 | frameshift variant | TGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGT/- | delins | 1 |