| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs118204456 | 0.851 | 0.200 | 5 | 177404231 | missense variant | G/C;T | snv | 4.3E-06 | 7 | ||
| rs1554097246 | 1.000 | 0.120 | 5 | 177404172 | splice donor variant | CTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTC/- | delins | 1 | |||
| rs774034606 | 1.000 | 0.120 | 5 | 177404302 | inframe insertion | -/AGGCGCCGCCTGGGTTGG | delins | 1 |