Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
| rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
| rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 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 | |||
| rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
| rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
| rs1553644307 | 0.925 | 0.160 | 2 | 178591418 | stop gained | T/A | snv | 3 | |||
| rs368200299 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 2 | ||||
| rs727504466 | 2 | 178591326 | frameshift variant | T/- | del | 2 | |||||
| rs727504799 | 2 | 178609683 | splice donor variant | C/G | snv | 2 | |||||
| rs869312054 | 2 | 178593566 | splice donor variant | A/G | snv | 1.4E-05 | 2 | ||||
| rs876657670 | 2 | 178560622 | stop gained | C/A;T | snv | 2 | |||||
| rs1561323791 | 2 | 178779110 | stop gained | C/T | snv | 1 | |||||
| rs1559192617 | 2 | 178550977 | frameshift variant | CTTGTCATAAT/- | delins | 1 | |||||
| rs1559262463 | 2 | 178558000 | frameshift variant | A/- | del | 1 | |||||
| rs1559448864 | 2 | 178575386 | frameshift variant | -/A | delins | 1 | |||||
| rs1559469421 | 2 | 178577230 | frameshift variant | -/A | delins | 1 | |||||
| rs1559712733 | 2 | 178604300 | splice acceptor variant | CCAGATCTAGAAATTAGA/AG | delins | 1 | |||||
| rs1559746821 | 2 | 178608282 | stop gained | A/T | snv | 1 | |||||
| rs769665204 | 2 | 178562076 | stop gained | G/A;T | snv | 4.1E-06 | 1 | ||||
| rs1559051231 | 2 | 178535728 | stop gained | C/T | snv | 1 |