| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs753426385 | 0.925 | 0.120 | Y | 14840846 | missense variant | A/G | snv | 2 | |||
| rs201053197 | 1.000 | 0.040 | Y | 1624367 | missense variant | C/T | snv | 1 | |||
| rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
| rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 19 | ||
| rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
| rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
| rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
| rs1064794254 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 6 | |||
| rs786205133 | 0.882 | 0.120 | X | 74592248 | missense variant | T/C | snv | 4 | |||
| rs1057519440 | 1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv | 3 | |||
| rs1282813621 | 0.925 | 0.200 | X | 119837956 | missense variant | C/T | snv | 4.8E-05 | 3 | ||
| rs140032597 | 0.925 | 0.200 | X | 119837923 | missense variant | C/T | snv | 6.6E-05 | 1.1E-04 | 3 | |
| rs200533370 | 0.882 | 0.160 | X | 47574285 | missense variant | T/C | snv | 1.1E-03 | 1.4E-02 | 3 | |
| rs3747333 | 0.925 | 0.040 | X | 5893491 | missense variant | G/A;C;T | snv | 7.6E-03 | 3 | ||
| rs3747334 | 0.925 | 0.040 | X | 5893489 | synonymous variant | G/A;C;T | snv | 1.2E-05; 6.7E-03 | 3 | ||
| rs62643608 | 0.882 | 0.200 | X | 18575390 | frameshift variant | T/- | delins | 3 | |||
| rs762578331 | 0.925 | 0.200 | X | 119837939 | missense variant | G/A;T | snv | 8.2E-05; 5.5E-06 | 3 | ||
| rs79667838 | 0.882 | 0.120 | X | 16150432 | missense variant | C/T | snv | 3.0E-04 | 4.8E-04 | 3 | |
| rs1882260 | 1.000 | 0.040 | X | 5890820 | 3 prime UTR variant | G/A | snv | 2 | |||
| rs397514680 | 0.925 | 0.160 | X | 47574336 | missense variant | C/G;T | snv | 2 | |||
| rs751945904 | 0.925 | 0.040 | X | 5893158 | missense variant | G/A | snv | 1.1E-05 | 2 | ||
| rs1057518993 | 1.000 | 0.040 | X | 53243367 | stop gained | G/A | snv | 1 | |||
| rs144093574 | 1.000 | 0.040 | X | 5903545 | missense variant | T/C | snv | 3.0E-04 | 2.8E-04 | 1 | |
| rs2290488 | 1.000 | 0.040 | X | 6227814 | 5 prime UTR variant | C/G;T | snv | 0.30 | 1 | ||
| rs3810686 | 1.000 | 0.040 | X | 5892533 | 3 prime UTR variant | C/A;T | snv | 1 |