| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
| rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
| rs1047624774 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 2 | |
| rs786205753 | 0.925 | 0.080 | 12 | 2593255 | missense variant | G/A | snv | 3 | |||
| rs11551437 | 1.000 | 0.080 | 2 | 47161833 | missense variant | G/A | snv | 3 | |||
| rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
| rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
| rs1287693879 | 1.000 | 0.120 | 6 | 38737083 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
| rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 | |||
| rs1247665387 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 14 | ||
| rs104894485 | 0.882 | 0.080 | 15 | 73325378 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 4 | |
| rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
| rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
| rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
| rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
| rs1554430943 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 4 | |||
| rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
| rs762510312 | 0.925 | 0.120 | 7 | 150946956 | missense variant | G/A;C | snv | 4.8E-05; 1.2E-05 | 3 | ||
| rs199473012 | 1.000 | 0.120 | 7 | 150947708 | missense variant | G/C | snv | 2.6E-05 | 4.2E-05 | 2 | |
| rs587777907 | 1.000 | 0.120 | 7 | 150958319 | missense variant | T/A | snv | 2.0E-05 | 2 | ||
| rs104894585 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 5 | |||
| rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
| rs199472730 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 5 | |||
| rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
| rs1554919471 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 4 |