| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs758452450 | 0.925 | 0.120 | 4 | 987873 | missense variant | G/A;C | snv | 8.3E-06 | 2 | ||
| rs794726877 | 0.925 | 0.120 | 4 | 987236 | missense variant | G/A | snv | 9.2E-06 | 1.4E-05 | 2 | |
| rs1553917209 | 1.000 | 0.120 | 4 | 1002065 | frameshift variant | C/- | del | 1 | |||
| rs398123258 | 1.000 | 0.120 | 4 | 1004083 | frameshift variant | C/- | del | 1 | |||
| rs1264013707 | 1.000 | 0.120 | 4 | 987243 | splice donor variant | G/A | snv | 9.0E-06 | 1 | ||
| rs398123260 | 1.000 | 0.120 | 4 | 987119 | inframe insertion | TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC | delins | 4.9E-05 | 1 |