Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
| rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
| rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
| rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
| rs869178171 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 7 | |||
| rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
| rs1553543413 | 0.807 | 0.200 | 2 | 178553783 | frameshift variant | -/T | delins | 6 | |||
| rs794729340 | 0.807 | 0.200 | 2 | 178570991 | frameshift variant | TCTT/- | delins | 6 | |||
| rs869312099 | 0.807 | 0.200 | 2 | 178738361 | splice acceptor variant | C/T | snv | 4.1E-06 | 1.4E-05 | 6 | |
| rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
| rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
| rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
| rs869320740 | 0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 | 4 | ||
| rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
| rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
| rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
| rs1553663867 | 0.925 | 0.160 | 2 | 178598969 | frameshift variant | G/- | del | 3 | |||
| rs281864927 | 0.882 | 0.160 | 2 | 178527198 | missense variant | CCATGTTACTT/TTTTTCTTTCA | mnv | 3 | |||
| rs373040154 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 3 | ||
| rs727503565 | 0.925 | 0.160 | 2 | 178574498 | frameshift variant | T/- | delins | 3 | |||
| rs727504531 | 0.925 | 0.160 | 2 | 178573463 | frameshift variant | A/- | del | 3 | |||
| rs727504550 | 0.925 | 0.160 | 2 | 178539537 | stop gained | C/T | snv | 3 | |||
| rs753334568 | 0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | |
| rs794729265 | 0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs869025545 | 0.925 | 0.160 | 2 | 178566448 | stop gained | G/A | snv | 3 |