| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
| rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
| rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
| rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
| rs121917849 | 0.882 | 0.200 | 8 | 63072990 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
| rs121917850 | 0.925 | 0.120 | 8 | 63064294 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 | 2 | |
| rs121917851 | 0.925 | 0.120 | 8 | 63066056 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 | 2 | |
| rs397515377 | 0.925 | 0.120 | 8 | 63061345 | frameshift variant | T/- | delins | 2 | |||
| rs397515378 | 0.925 | 0.120 | 8 | 63065969 | frameshift variant | A/- | delins | 5.6E-05 | 2 | ||
| rs397515379 | 0.925 | 0.120 | 8 | 63065942 | frameshift variant | -/AA | ins | 9.8E-05 | 2 | ||
| rs1008240677 | 1.000 | 0.120 | 8 | 63086009 | stop gained | G/A | snv | 1 | |||
| rs1057516423 | 1.000 | 0.120 | 8 | 63072980 | stop gained | T/A | snv | 1 | |||
| rs1057517448 | 1.000 | 0.120 | 8 | 63066015 | frameshift variant | T/- | del | 1 | |||
| rs1408863841 | 1.000 | 0.120 | 8 | 63086021 | start lost | T/A;C | snv | 1 | |||
| rs143010236 | 1.000 | 0.120 | 8 | 63072935 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 | 1 | |
| rs1554524061 | 1.000 | 0.120 | 8 | 63073064 | stop gained | TCC/AAT | mnv | 1 | |||
| rs1554525125 | 1.000 | 0.120 | 8 | 63085904 | frameshift variant | CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG/- | delins | 1 | |||
| rs1554525128 | 1.000 | 0.120 | 8 | 63085917 | frameshift variant | GCCGCAGCGCCGCCAGGCCCGGC/- | delins | 1 | |||
| rs1554605498 | 1.000 | 0.120 | 8 | 63064312 | stop gained | G/T | snv | 1 | |||
| rs1554605631 | 1.000 | 0.120 | 8 | 63065925 | frameshift variant | CT/ACTTAC | delins | 1 | |||
| rs1563363293 | 1.000 | 0.120 | 8 | 63072954 | frameshift variant | T/- | delins | 1 | |||
| rs35916840 | 1.000 | 0.120 | 8 | 63064208 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 1 | |
| rs397515522 | 1.000 | 0.120 | 8 | 63085847 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs397515523 | 1.000 | 0.120 | 8 | 63085831 | missense variant | T/C | snv | 1 | |||
| rs397515524 | 1.000 | 0.120 | 8 | 63066035 | stop gained | C/A;T | snv | 4.0E-06; 2.4E-05 | 1 |