| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28931569 | 0.882 | 0.160 | 14 | 94383044 | missense variant | A/G | snv | 4.4E-05 | 3.5E-05 | 3 | |
| rs1555369172 | 0.882 | 0.160 | 14 | 94383011 | missense variant | A/G | snv | 3 | |||
| rs775982338 | 0.882 | 0.160 | 14 | 94383009 | inframe deletion | AGA/- | delins | 1.7E-04 | 3 | ||
| rs55819880 | 0.882 | 0.160 | 14 | 94383008 | missense variant | G/A | snv | 1.4E-04 | 3 | ||
| rs28931568 | 0.882 | 0.160 | 14 | 94382966 | missense variant | C/T | snv | 3 | |||
| rs28931572 | 0.882 | 0.160 | 14 | 94382891 | missense variant | A/T | snv | 3 | |||
| rs11558261 | 0.882 | 0.160 | 14 | 94382823 | missense variant | C/T | snv | 9.1E-05 | 3.5E-05 | 3 | |
| rs267606950 | 0.882 | 0.160 | 14 | 94382686 | frameshift variant | G/- | del | 1.4E-05 | 3 | ||
| rs756773408 | 0.882 | 0.160 | 14 | 94382592 | missense variant | C/A | snv | 2.0E-05 | 2.8E-05 | 3 | |
| rs751235320 | 0.882 | 0.160 | 14 | 94382591 | splice donor variant | C/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs6647 | 0.925 | 0.040 | 14 | 94381078 | missense variant | A/G | snv | 0.21 | 0.31 | 2 | |
| rs199422211 | 0.882 | 0.160 | 14 | 94381067 | stop gained | T/A | snv | 1.6E-05 | 7.0E-06 | 3 | |
| rs121912714 | 0.882 | 0.160 | 14 | 94380949 | missense variant | T/A | snv | 4.7E-04 | 3.3E-04 | 4 | |
| rs17580 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 14 | |
| rs1555367896 | 0.882 | 0.160 | 14 | 94378640 | splice donor variant | GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/- | delins | 3 | |||
| rs1555367891 | 0.882 | 0.160 | 14 | 94378633 | missense variant | T/C | snv | 3 | |||
| rs1555367892 | 0.882 | 0.160 | 14 | 94378633 | frameshift variant | TG/- | del | 3 | |||
| rs28929474 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 37 | ||
| rs121912713 | 0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv | 5 | |||
| rs764325655 | 0.882 | 0.160 | 14 | 94378548 | frameshift variant | G/-;GG | delins | 4.2E-05 | 3 | ||
| rs199422209 | 0.882 | 0.160 | 14 | 94378528 | missense variant | G/A;C;T | snv | 4.8E-05; 1.2E-05; 3.2E-05 | 4 | ||
| rs1051052 | 1.000 | 0.040 | 14 | 94377595 | 3 prime UTR variant | A/G | snv | 0.47 | 1 | ||
| rs1243166 | 1.000 | 0.040 | 14 | 94377481 | 3 prime UTR variant | A/G | snv | 0.70 | 1 | ||
| rs9944155 | 1.000 | 0.040 | 14 | 94377162 | 3 prime UTR variant | C/T | snv | 4.3E-03 | 1 | ||
| rs117607728 | 1.000 | 0.040 | 10 | 94298879 | intron variant | G/A;T | snv | 1 |