Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517983 | 1.000 | 0.120 | 17 | 7674232 | missense variant | C/A;G;T | snv | 1 | |||
| rs1060501194 | 1.000 | 0.120 | 17 | 7673830 | frameshift variant | G/- | del | 1 | |||
| rs1060501197 | 1.000 | 0.120 | 17 | 7674247 | frameshift variant | T/- | delins | 1 | |||
| rs1060501207 | 1.000 | 0.120 | 17 | 7673839 | splice acceptor variant | T/C | snv | 1 | |||
| rs1060501212 | 1.000 | 0.120 | 17 | 7674973 | splice acceptor variant | TAA/- | del | 1 | |||
| rs1064792930 | 1.000 | 0.120 | 17 | 7675152 | frameshift variant | CGGGCGGGGGTGT/- | del | 1 | |||
| rs1064794309 | 1.000 | 0.120 | 17 | 7674197 | inframe deletion | ATG/- | delins | 1 | |||
| rs1555523630 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 1 | |||
| rs1555524949 | 1.000 | 0.120 | 17 | 7673535 | frameshift variant | CTGA/- | del | 1 | |||
| rs1555525040 | 1.000 | 0.120 | 17 | 7673691 | splice donor variant | GCTTACCTCGCTT/- | delins | 1 | |||
| rs1555525140 | 1.000 | 0.120 | 17 | 7673749 | frameshift variant | -/G | delins | 1 | |||
| rs1555525170 | 1.000 | 0.120 | 17 | 7673763 | frameshift variant | TCCTCTGTGC/- | del | 1 | |||
| rs1555525209 | 1.000 | 0.120 | 17 | 7673773 | frameshift variant | GCCG/CT | delins | 1 | |||
| rs1555525498 | 1.000 | 0.120 | 17 | 7674221 | missense variant | GG/AA | mnv | 1 | |||
| rs1555525518 | 1.000 | 0.120 | 17 | 7674239 | frameshift variant | GGAACTGTTA/- | delins | 1 | |||
| rs1555525703 | 1.000 | 0.120 | 17 | 7674857 | splice donor variant | A/T | snv | 1 | |||
| rs1555525957 | 1.000 | 0.120 | 17 | 7675048 | splice region variant | CATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCAC/- | delins | 1 | |||
| rs1555526462 | 1.000 | 0.120 | 17 | 7675973 | splice donor variant | CAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA/- | del | 1 | |||
| rs1555526470 | 1.000 | 0.120 | 17 | 7675992 | splice region variant | -/C | delins | 1 | |||
| rs1555526478 | 1.000 | 0.120 | 17 | 7675997 | stop gained | G/T | snv | 1 | |||
| rs1555526495 | 1.000 | 0.120 | 17 | 7676004 | frameshift variant | -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC | delins | 1 | |||
| rs1555526593 | 1.000 | 0.120 | 17 | 7676074 | frameshift variant | A/- | delins | 1 | |||
| rs1555526748 | 1.000 | 0.120 | 17 | 7676212 | frameshift variant | -/T | delins | 1 | |||
| rs1555526750 | 1.000 | 0.120 | 17 | 7676213 | frameshift variant | TT/- | del | 1 | |||
| rs1555526795 | 1.000 | 0.120 | 17 | 7676257 | frameshift variant | G/- | delins | 1 |