| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs267607577 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 2 | |||||
| rs267607618 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 2 | |||
| rs267607646 | 1.000 | 0.080 | 1 | 156115265 | frameshift variant | -/G | delins | 2 | |||
| rs28933092 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 2 | |||
| rs397517888 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 2 | |||
| rs58013325 | 1.000 | 0.080 | 1 | 156137144 | frameshift variant | -/C | delins | 2 | |||
| rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 2 | |||
| rs59301204 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 2 | ||
| rs61046466 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 2 | |||
| rs61444459 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 2 | |||
| rs794728589 | 1.000 | 0.080 | 1 | 156115275 | splice donor variant | G/A;C | snv | 2 | |||
| rs794728591 | 1.000 | 0.080 | 1 | 156134811 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs111569862 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 1 | |||||
| rs267607593 | 1 | 156134964 | missense variant | T/C | snv | 1 | |||||
| rs267607594 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 1 | |||
| rs28933090 | 0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv | 1 | |||
| rs397516454 | 1 | 201365610 | missense variant | A/C | snv | 1 | |||||
| rs397516461 | 1 | 201365220 | missense variant | C/T | snv | 1 | |||||
| rs397516464 | 1 | 201364365 | missense variant | C/G;T | snv | 1 | |||||
| rs397517886 | 1 | 156136070 | missense variant | T/C | snv | 1 | |||||
| rs397517887 | 1 | 156136074 | inframe deletion | ATGGAGATCCACGCC/- | delins | 1 | |||||
| rs397517895 | 1 | 156115072 | missense variant | C/G | snv | 1 | |||||
| rs397517904 | 1 | 156130774 | splice donor variant | G/A;C;T | snv | 1 | |||||
| rs397517908 | 1 | 156134927 | frameshift variant | C/- | delins | 1 |