| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs879255539 | 0.882 | 0.040 | X | 19003070 | frameshift variant | CACAG/TCT | delins | 4 | |||
| rs774488954 | 0.882 | 0.040 | X | 19008001 | frameshift variant | A/-;AA | delins | 4 | |||
| rs879255538 | 0.882 | 0.040 | X | 18994920 | frameshift variant | A/- | delins | 4 | |||
| rs779007169 | 1.000 | 0.080 | 16 | 1520177 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||
| rs137852920 | 1.000 | 0.080 | 1 | 5904716 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 2 |