| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs756433029 | 2 | 178777235 | frameshift variant | TTTCA/- | delins | 8.0E-06 | 1.4E-05 | 1 | |||
| rs1561323791 | 2 | 178779110 | stop gained | C/T | snv | 1 | |||||
| rs587780490 | 1.000 | 0.120 | 2 | 178776817 | stop gained | G/A | snv | 1 | |||
| rs587780494 | 1.000 | 0.120 | 2 | 178775155 | frameshift variant | -/TGTCTGTTTCCTTACA | ins | 1.6E-05 | 2.8E-05 | 1 | |
| rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
| rs886041287 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 8 | |||
| rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
| rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
| rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
| rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
| rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
| rs1553650442 | 0.925 | 0.160 | 2 | 178593732 | frameshift variant | C/-;CCC | delins | 3 | |||
| rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs974671846 | 0.925 | 0.160 | 2 | 178592211 | stop gained | C/T | snv | 7.0E-06 | 3 | ||
| rs1559415567 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 3 | |||
| rs397517776 | 0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 | 3 | ||
| rs770038577 | 0.925 | 0.160 | 2 | 178561042 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
| rs869312112 | 0.925 | 0.160 | 2 | 178590230 | stop gained | G/A | snv | 3 | |||
| rs869312118 | 0.925 | 0.160 | 2 | 178562617 | stop gained | G/A | snv | 3 | |||
| rs727503586 | 0.925 | 0.160 | 2 | 178589508 | stop gained | A/T | snv | 3 | |||
| rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
| rs397517643 | 0.925 | 0.160 | 2 | 178592914 | frameshift variant | C/- | del | 3 | |||
| rs727505284 | 0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
| rs397517696 | 0.925 | 0.160 | 2 | 178572287 | frameshift variant | T/- | delins | 3 | |||
| rs727504535 | 0.925 | 0.160 | 2 | 178538835 | frameshift variant | T/- | delins | 4.2E-06 | 3 |