| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
| rs104894655 | 0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 | 3 | ||
| rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
| rs758537946 | 18 | 31531044 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |||
| rs756433029 | 2 | 178777235 | frameshift variant | TTTCA/- | delins | 8.0E-06 | 1.4E-05 | 1 | |||
| rs587777587 | 1.000 | 3 | 12584539 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1.4E-05 | 2 | ||
| rs267607004 | 0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
| rs397517580 | 2 | 178621517 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs869312048 | 2 | 178615418 | stop gained | C/T | snv | 7.0E-06 | 1 | ||||
| rs794729265 | 0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs794729324 | 2 | 178607209 | frameshift variant | C/- | delins | 7.0E-06 | 1 | ||||
| rs974671846 | 0.925 | 0.160 | 2 | 178592211 | stop gained | C/T | snv | 7.0E-06 | 3 | ||
| rs397517633 | 2 | 178594499 | frameshift variant | T/- | del | 7.0E-06 | 1 | ||||
| rs397517626 | 1.000 | 0.040 | 2 | 178598977 | frameshift variant | -/T | delins | 4.1E-06 | 7.0E-06 | 2 | |
| rs727504443 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 5 | ||
| rs992189342 | 15 | 57618106 | stop gained | C/A;T | snv | 7.0E-06 | 1 | ||||
| rs869312121 | 2 | 178546476 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs869312038 | 2 | 178740589 | frameshift variant | TG/- | delins | 7.0E-06 | 1 | ||||
| rs730880140 | 1.000 | 0.080 | 11 | 47333297 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
| rs794728591 | 1.000 | 0.080 | 1 | 156134811 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs869312037 | 2 | 178770484 | frameshift variant | CA/- | delins | 7.0E-06 | 1 | ||||
| rs779488376 | 10 | 74095825 | frameshift variant | A/- | del | 4.0E-05 | 7.0E-06 | 1 | |||
| rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
| rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs727504448 | 2 | 219420116 | frameshift variant | G/- | del | 7.0E-06 | 2 |