Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386834236 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 6 | |
| rs1055945806 | 1.000 | 0.120 | 17 | 80104552 | splice region variant | C/A;T | snv | 1 | |||
| rs1555598460 | 1.000 | 0.120 | 17 | 80104554 | splice acceptor variant | G/C | snv | 1 | |||
| rs786204467 | 1.000 | 0.120 | 17 | 80104587 | start lost | A/G | snv | 7.0E-06 | 1 | ||
| rs1555598544 | 1.000 | 0.120 | 17 | 80104641 | frameshift variant | G/- | del | 1 | |||
| rs767409395 | 1.000 | 0.120 | 17 | 80104704 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs1057516251 | 1.000 | 0.120 | 17 | 80104755 | stop gained | C/T | snv | 1 | |||
| rs201185475 | 1.000 | 0.120 | 17 | 80104758 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
| rs1057517165 | 1.000 | 0.120 | 17 | 80104816 | frameshift variant | CCACACAGTGC/- | delins | 1 | |||
| rs1555598687 | 1.000 | 0.120 | 17 | 80104827 | stop gained | C/T | snv | 1 | |||
| rs761317813 | 1.000 | 0.120 | 17 | 80104838 | frameshift variant | C/-;CC | delins | 1 | |||
| rs1057516503 | 1.000 | 0.120 | 17 | 80104867 | frameshift variant | CT/- | del | 1 | |||
| rs398123174 | 1.000 | 0.120 | 17 | 80104893 | missense variant | T/G | snv | 1 | |||
| rs1555598796 | 1.000 | 0.120 | 17 | 80104928 | frameshift variant | G/- | del | 1 | |||
| rs786204614 | 1.000 | 0.120 | 17 | 80104929 | stop gained | C/T | snv | 1 | |||
| rs1555598800 | 1.000 | 0.120 | 17 | 80104938 | stop gained | C/T | snv | 1 | |||
| rs786204661 | 1.000 | 0.120 | 17 | 80104951 | frameshift variant | T/- | del | 7.0E-06 | 1 | ||
| rs1555598824 | 1.000 | 0.120 | 17 | 80104962 | frameshift variant | T/- | del | 1 | |||
| rs1207988953 | 1.000 | 0.120 | 17 | 80104964 | frameshift variant | TG/- | delins | 1 | |||
| rs1057517381 | 1.000 | 0.120 | 17 | 80104977 | frameshift variant | C/- | delins | 1 | |||
| rs1555598869 | 1.000 | 0.120 | 17 | 80105023 | frameshift variant | T/- | del | 1 | |||
| rs1555598880 | 1.000 | 0.120 | 17 | 80105032 | frameshift variant | -/G | delins | 1 | |||
| rs1057517320 | 1.000 | 0.120 | 17 | 80105053 | frameshift variant | C/- | delins | 1 | |||
| rs386834235 | 1.000 | 0.120 | 17 | 80105111 | frameshift variant | T/- | del | 1.8E-04 | 1 | ||
| rs767882689 | 1.000 | 0.120 | 17 | 80105111 | frameshift variant | TG/- | del | 1 |