| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
| rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
| rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
| rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
| rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
| rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
| rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
| rs893924483 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 23 | |
| rs2266788 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 19 | ||
| rs748379243 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 6 | |
| rs897535441 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 5 | |||
| rs770499406 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 4 | |
| rs770804393 | 0.882 | 0.240 | 14 | 100734514 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs121434323 | 0.925 | 0.160 | 5 | 60890964 | stop gained | G/C;T | snv | 4.0E-06 | 2 | ||
| rs372237310 | 0.925 | 0.160 | 5 | 60887522 | splice acceptor variant | T/C | snv | 8.0E-06; 4.0E-06 | 2 | ||
| rs536368448 | 0.925 | 0.200 | 12 | 5494689 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
| rs121434325 | 1.000 | 0.160 | 5 | 60904794 | missense variant | G/A | snv | 8.0E-06 | 7.1E-06 | 1 | |
| rs121434326 | 1.000 | 0.160 | 5 | 60902446 | missense variant | C/G | snv | 6.4E-05 | 1 | ||
| rs1305258765 | 1.000 | 0.160 | 5 | 60898275 | splice donor variant | C/A | snv | 7.0E-06 | 1 | ||
| rs1468231556 | 1.000 | 0.160 | 5 | 60902458 | frameshift variant | -/A | delins | 1.4E-05 | 1 | ||
| rs1476095782 | 1.000 | 0.160 | 5 | 60928863 | splice donor variant | C/T | snv | 8.0E-06 | 1 | ||
| rs1482664387 | 1.000 | 0.160 | 5 | 60887439 | splice donor variant | C/T | snv | 7.0E-06 | 1 | ||
| rs1554072713 | 1.000 | 0.160 | 5 | 60891002 | frameshift variant | C/- | del | 1 | |||
| rs1554073117 | 1.000 | 0.160 | 5 | 60898402 | splice acceptor variant | T/A;C | snv | 1 | |||
| rs1554073175 | 1.000 | 0.160 | 5 | 60899666 | frameshift variant | C/- | del | 1 |