| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs606231193 | 0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 6 | |||
| rs121917899 | 1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv | 2 | |||
| rs606231197 | 1.000 | 0.080 | X | 48902484 | frameshift variant | GAGCTGGCTCCCTATCCCAAGAG/- | delins | 1 | |||
| rs1557041672 | 1.000 | 0.080 | X | 48902740 | stop gained | C/T | snv | 1 | |||
| rs606231196 | 1.000 | 0.080 | X | 48902788 | splice donor variant | -/C;CCCC | delins | 1 |