| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs863225053 | 0.925 | 0.040 | 20 | 63690162 | inframe deletion | ATGTCATCC/- | delins | 2 | |||
| rs863225129 | 0.925 | 0.160 | 20 | 63687936 | splice acceptor variant | G/A | snv | 2 | |||
| rs1555899640 | 1.000 | 0.040 | 20 | 63661935 | frameshift variant | TC/- | delins | 1 | |||
| rs5743894 | 1.000 | 0.040 | 11 | 1303542 | intron variant | T/A;C | snv | 1 | |||
| rs73606754 | 1.000 | 0.040 | 19 | 54420809 | splice region variant | C/G;T | snv | 1 | |||
| rs748223349 | 1.000 | 0.040 | 20 | 63688001 | missense variant | G/A;C | snv | 1.6E-05 | 1 | ||
| rs863225130 | 1.000 | 0.040 | 20 | 63688161 | missense variant | T/G | snv | 1 | |||
| rs869312855 | 1.000 | 0.040 | 20 | 63678184 | splice donor variant | -/T | delins | 1 | |||
| rs776525427 | 1.000 | 0.040 | 20 | 63695387 | stop gained | C/G;T | snv | 1.0E-05 | 7.0E-06 | 1 | |
| rs121918666 | 0.882 | 0.160 | 5 | 1266524 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 3 | |
| rs201540674 | 0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 | 4 | |
| rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
| rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
| rs11568819 | 1.000 | 0.040 | 11 | 102530902 | upstream gene variant | G/A | snv | 5.5E-02 | 2 | ||
| rs5743890 | 0.925 | 0.040 | 11 | 1304599 | intron variant | T/C | snv | 9.7E-02 | 4 | ||
| rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
| rs111521887 | 1.000 | 0.040 | 11 | 1291476 | intron variant | C/G | snv | 0.12 | 1 | ||
| rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
| rs12602273 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 4 | ||
| rs62025270 | 1.000 | 0.040 | 15 | 85756967 | upstream gene variant | G/A | snv | 0.17 | 1 | ||
| rs17690703 | 0.882 | 0.160 | 17 | 45847931 | intron variant | C/T | snv | 0.18 | 4 | ||
| rs2075800 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 8 | |
| rs1881984 | 1.000 | 0.040 | 3 | 169746671 | intergenic variant | A/G | snv | 0.30 | 1 | ||
| rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
| rs28673968 | 1.000 | 0.040 | 4 | 89655739 | intron variant | T/C | snv | 0.37 | 1 |