| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553624347 | 1.000 | 2 | 219505556 | splice donor variant | G/A | snv | 1 | ||||
| rs397518462 | 1.000 | 2 | 219504138 | missense variant | G/A;C | snv | 1 | ||||
| rs397518461 | 1.000 | 2 | 219506260 | missense variant | A/C | snv | 1 | ||||
| rs397518460 | 1.000 | 2 | 219501903 | stop gained | C/G;T | snv | 8.0E-06 | 1 | |||
| rs886037654 | 1.000 | 2 | 219501546 | frameshift variant | A/- | delins | 1 | ||||
| rs587777672 | 1.000 | 2 | 219484160 | stop gained | C/A;G;T | snv | 1.6E-05; 1.6E-05 | 1 | |||
| rs587777676 | 1.000 | 2 | 219489174 | missense variant | G/T | snv | 1 |