Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs757458607 | 1.000 | 0.120 | 17 | 80108555 | frameshift variant | C/- | delins | 4.0E-06 | 1 | ||
| rs781088002 | 1.000 | 0.120 | 17 | 80112650 | frameshift variant | C/- | del | 2.9E-05 | 4.2E-05 | 1 | |
| rs786204549 | 1.000 | 0.120 | 17 | 80113316 | frameshift variant | C/- | delins | 1 | |||
| rs886043920 | 1.000 | 0.120 | 17 | 80107599 | frameshift variant | C/- | delins | 1 | |||
| rs1057516546 | 1.000 | 0.120 | 17 | 80108601 | frameshift variant | C/-;CC | delins | 1 | |||
| rs761317813 | 1.000 | 0.120 | 17 | 80104838 | frameshift variant | C/-;CC | delins | 1 | |||
| rs750030887 | 1.000 | 0.120 | 17 | 80108305 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 1 | ||
| rs892129065 | 1.000 | 0.120 | 17 | 80110953 | missense variant | C/A;G;T | snv | 8.0E-06 | 1.4E-05 | 1 | |
| rs121907938 | 0.925 | 0.120 | 17 | 80113350 | missense variant | C/A;T | snv | 3.9E-05 | 2 | ||
| rs28940868 | 0.851 | 0.120 | 17 | 80112922 | missense variant | C/A;T | snv | 1.2E-04; 8.2E-06 | 2 | ||
| rs1055945806 | 1.000 | 0.120 | 17 | 80104552 | splice region variant | C/A;T | snv | 1 | |||
| rs1414146587 | 1.000 | 0.120 | 17 | 80112892 | missense variant | C/A;T | snv | 4.1E-06 | 1 | ||
| rs1555603318 | 1.000 | 0.120 | 17 | 80118807 | splice donor variant | C/A;T | snv | 1 | |||
| rs369531647 | 1.000 | 0.120 | 17 | 80112664 | missense variant | C/A;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 1 | ||
| rs376229714 | 1.000 | 0.120 | 17 | 80105775 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs780321415 | 1.000 | 0.120 | 17 | 80118319 | stop gained | C/A;T | snv | 2.7E-05 | 1 | ||
| rs375470378 | 1.000 | 0.120 | 17 | 80110938 | splice region variant | C/G | snv | 1.4E-04 | 7.7E-05 | 1 | |
| rs764622267 | 0.925 | 0.120 | 17 | 80107718 | missense variant | C/G;T | snv | 5.1E-06; 5.1E-06 | 2 | ||
| rs755253527 | 1.000 | 0.120 | 17 | 80108495 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs776948121 | 0.925 | 0.120 | 17 | 80112928 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
| rs914396317 | 1.000 | 0.120 | 17 | 80112680 | missense variant | C/G;T | snv | 1 | |||
| rs1057516251 | 1.000 | 0.120 | 17 | 80104755 | stop gained | C/T | snv | 1 | |||
| rs1057516277 | 1.000 | 0.120 | 17 | 80117005 | stop gained | C/T | snv | 1 | |||
| rs1057516341 | 1.000 | 0.120 | 17 | 80118710 | stop gained | C/T | snv | 1 | |||
| rs1057516426 | 1.000 | 0.120 | 17 | 80112033 | stop gained | C/T | snv | 1 |