| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
| rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
| rs1162037663 | 1.000 | 22 | 20052575 | stop gained | C/T | snv | 5.5E-06 | 1 | |||
| rs199801224 | 1.000 | 22 | 20043392 | stop gained | C/A;T | snv | 2.8E-05 | 1 | |||
| rs764883927 | 1.000 | 22 | 20055980 | stop gained | C/T | snv | 7.0E-06 | 1 | |||
| rs869320693 | 1.000 | 22 | 20036802 | frameshift variant | T/- | del | 1 |