Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs431825382 | 1.000 | 17 | 43045572 | 3 prime UTR variant | ACAG/- | delins | 1 | ||||
| rs397507254 | 1.000 | 17 | 43045692 | frameshift variant | G/-;GG | delins | 2 | ||||
| rs80359883 | 1.000 | 17 | 43045706 | frameshift variant | ATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG/- | del | 1 | ||||
| rs886040305 | 1.000 | 17 | 43045710 | frameshift variant | GTAGG/- | delins | 1 | ||||
| rs886040306 | 1.000 | 17 | 43045710 | frameshift variant | G/- | delins | 1 | ||||
| rs80357629 | 0.925 | 0.200 | 17 | 43045711 | stop gained | -/T | delins | 7.0E-06 | 3 | ||
| rs80357336 | 0.925 | 0.080 | 17 | 43045711 | stop gained | G/C;T | snv | 1 | |||
| rs886040302 | 1.000 | 17 | 43045714 | frameshift variant | GTCCAGCTCCTGGCACTGGT/- | delins | 1 | ||||
| rs397509297 | 1.000 | 17 | 43045716 | frameshift variant | -/G | delins | 1 | ||||
| rs886040304 | 1.000 | 17 | 43045719 | frameshift variant | C/- | delins | 1 | ||||
| rs397509296 | 1.000 | 17 | 43045722 | frameshift variant | G/- | del | 1 | ||||
| rs886040303 | 1.000 | 17 | 43045728 | stop gained | G/A | snv | 1 | ||||
| rs397509295 | 0.925 | 0.200 | 17 | 43045729 | stop gained | G/A;C;T | snv | 4.0E-06 | 2 | ||
| rs80356873 | 1.000 | 17 | 43045734 | stop gained | G/A;T | snv | 1 | ||||
| rs886040301 | 1.000 | 17 | 43045734 | frameshift variant | G/- | delins | 1 | ||||
| rs80356977 | 1.000 | 17 | 43045735 | stop gained | G/C;T | snv | 1 | ||||
| rs1060505048 | 0.925 | 0.200 | 17 | 43045736 | frameshift variant | T/- | del | 3 | |||
| rs1555574384 | 1.000 | 17 | 43045736 | stop gained | -/C | ins | 1 | ||||
| rs397509294 | 1.000 | 17 | 43045736 | frameshift variant | -/A | delins | 1 | ||||
| rs1064793059 | 1.000 | 17 | 43045737 | frameshift variant | AG/- | delins | 1 | ||||
| rs879255287 | 1.000 | 17 | 43045739 | frameshift variant | GTGCTACA/- | delins | 1 | ||||
| rs864622220 | 0.925 | 0.200 | 17 | 43045745 | frameshift variant | A/- | del | 2 | |||
| rs80357721 | 0.925 | 0.200 | 17 | 43045749 | frameshift variant | T/- | del | 3 | |||
| rs1555574411 | 1.000 | 17 | 43045749 | coding sequence variant | -/TCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAG | delins | 1 | ||||
| rs1555574414 | 1.000 | 17 | 43045752 | frameshift variant | C/- | delins | 1 |