| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
| rs1553704696 | 1.000 | 2 | 229859313 | frameshift variant | T/- | delins | 2 | ||||
| rs1553620494 | 1.000 | 2 | 229802253 | frameshift variant | -/T | delins | 1 | ||||
| rs1553616463 | 1.000 | 2 | 229798874 | splice donor variant | C/T | snv | 1 | ||||
| rs1559428905 | 1.000 | 2 | 229791963 | stop gained | G/A | snv | 1 | ||||
| rs1553704327 | 1.000 | 2 | 229859212 | frameshift variant | CT/- | delins | 1 | ||||
| rs1553614300 | 1.000 | 2 | 229796735 | frameshift variant | TG/- | del | 1 | ||||
| rs1553612358 | 1.000 | 2 | 229795178 | splice donor variant | C/T | snv | 1 | ||||
| rs747501109 | 1.000 | 2 | 229771526 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
| rs1553602821 | 1.000 | 2 | 229785842 | missense variant | C/T | snv | 1 |