Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs180177097 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 4 | |||
| rs515726123 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 4 | ||
| rs180177102 | 1.000 | 0.080 | 16 | 23634954 | frameshift variant | AA/-;A | delins | 1.8E-04 | 1.3E-04 | 3 | |
| rs180177111 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
| rs180177142 | 0.925 | 0.080 | 16 | 23638106 | frameshift variant | C/- | del | 3 | |||
| rs180177143 | 0.882 | 0.080 | 16 | 23637886 | frameshift variant | ACAA/- | delins | 4.0E-05 | 3.5E-05 | 3 | |
| rs587776417 | 0.925 | 0.080 | 16 | 23629276 | splice acceptor variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
| rs587776527 | 0.925 | 0.080 | 16 | 23607958 | stop gained | G/A;C | snv | 2.0E-05 | 3 | ||
| rs587782443 | 0.925 | 0.080 | 16 | 23636320 | frameshift variant | T/- | delins | 4.1E-06 | 7.0E-06 | 3 | |
| rs587782570 | 0.925 | 0.080 | 16 | 23623033 | frameshift variant | -/T | delins | 4.0E-06 | 3 | ||
| rs869312772 | 0.925 | 0.080 | 16 | 23635383 | frameshift variant | G/-;GG | delins | 3 | |||
| rs876659036 | 1.000 | 0.080 | 16 | 23622997 | stop gained | C/A;G | snv | 8.0E-06; 8.0E-06 | 3 | ||
| rs1057517539 | 1.000 | 0.080 | 16 | 23629214 | stop gained | G/T | snv | 2 | |||
| rs1057517585 | 1.000 | 0.080 | 16 | 23641155 | start lost | C/T | snv | 2 | |||
| rs1057517600 | 1.000 | 0.080 | 16 | 23607958 | frameshift variant | G/- | del | 2 | |||
| rs1060499814 | 1.000 | 0.080 | 16 | 23638069 | splice donor variant | C/T | snv | 7.0E-06 | 2 | ||
| rs1060499819 | 1.000 | 0.080 | 16 | 23630062 | frameshift variant | G/- | delins | 7.0E-06 | 2 | ||
| rs1060499827 | 1.000 | 0.080 | 16 | 23608014 | splice acceptor variant | T/G | snv | 2 | |||
| rs1060499830 | 1.000 | 0.080 | 16 | 23635787 | frameshift variant | T/- | del | 2 | |||
| rs1060502734 | 1.000 | 0.080 | 16 | 23634872 | frameshift variant | ATAA/- | delins | 4.0E-06; 8.0E-06 | 2 | ||
| rs1060502759 | 1.000 | 0.080 | 16 | 23630447 | frameshift variant | TTTT/-;TT;TTT | delins | 2 | |||
| rs1060502760 | 1.000 | 0.080 | 16 | 23636191 | frameshift variant | G/- | del | 2 | |||
| rs1060502800 | 1.000 | 0.080 | 16 | 23635592 | frameshift variant | AC/- | del | 2 | |||
| rs1060502804 | 1.000 | 0.080 | 16 | 23624095 | splice acceptor variant | C/A;G | snv | 4.0E-06 | 2 | ||
| rs1064795824 | 1.000 | 0.080 | 16 | 23623087 | frameshift variant | G/- | del | 2 |