| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs140291094 | 0.742 | 0.320 | 12 | 57244322 | missense variant | C/G | snv | 9.1E-05 | 3.8E-04 | 11 | |
| rs1557134621 | 0.827 | 0.120 | X | 154030106 | splice acceptor variant | CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/- | delins | 5 | |||
| rs575822089 | 0.882 | 0.120 | 4 | 106262103 | stop gained | G/A | snv | 7.7E-05 | 2.2E-04 | 3 | |
| rs1230845897 | 1.000 | 0.120 | 2 | 209839406 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
| rs1468237883 | 1.000 | 0.120 | 2 | 209839421 | missense variant | C/T | snv | 1 | |||
| rs754371531 | 1.000 | 0.120 | 2 | 209839385 | stop gained | C/T | snv | 1.3E-05 | 7.0E-06 | 1 |