| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs554903493 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 2 | ||
| 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 | |
| rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
| 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 | ||
| rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
| rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
| rs587777907 | 1.000 | 0.120 | 7 | 150958319 | missense variant | T/A | snv | 2.0E-05 | 2 | ||
| rs1554430943 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 4 | |||
| rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 | |||
| rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
| rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
| rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
| rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
| rs1047624774 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 2 | |
| 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 | |
| rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
| rs199473442 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 3 | |||
| rs199473401 | 0.925 | 0.120 | 11 | 2570722 | missense variant | T/C | snv | 4 | |||
| rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
| rs120074179 | 0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv | 3 | |||
| rs199472718 | 1.000 | 0.120 | 11 | 2572102 | missense variant | A/C;G | snv | 2 | |||
| rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 7 |