| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
| rs748793969 | 0.827 | 0.120 | 15 | 45106327 | missense variant | G/A;T | snv | 3.2E-05; 6.8E-05 | 5 | ||
| rs191759494 | 0.882 | 0.120 | 15 | 45108159 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 3 | ||
| rs530719719 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 3 | |
| rs119472026 | 0.925 | 0.120 | 15 | 45108887 | stop gained | G/A;C | snv | 6.8E-05 | 2 | ||
| rs181461079 | 0.925 | 0.120 | 15 | 45103960 | missense variant | C/A;T | snv | 4.1E-04; 1.2E-04 | 2 | ||
| rs746165975 | 0.925 | 0.120 | 15 | 45106254 | frameshift variant | -/T | delins | 4.0E-06 | 2 | ||
| rs1169358460 | 1.000 | 0.120 | 15 | 45106906 | frameshift variant | G/- | del | 5.0E-06 | 1 | ||
| rs147945181 | 1.000 | 0.120 | 15 | 45095881 | missense variant | G/A | snv | 5.9E-04 | 3.1E-04 | 1 | |
| rs756822740 | 1.000 | 0.120 | 15 | 45099838 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs762588205 | 1.000 | 0.120 | 15 | 45097691 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs8028305 | 1.000 | 0.120 | 15 | 45106225 | missense variant | C/A;T | snv | 3.4E-04; 1.2E-05 | 1 | ||
| rs4774518 | 0.925 | 0.120 | 15 | 45117274 | stop gained | C/G;T | snv | 1.4E-04; 1.7E-02 | 3 | ||
| rs104894110 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 8 | |||
| rs1466641857 | 1.000 | 0.120 | 20 | 58853413 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
| rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
| rs1991517 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 13 | |
| rs189261858 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 8 | ||
| rs763679435 | 0.882 | 0.120 | 14 | 81143883 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 4 | |
| rs765367813 | 0.882 | 0.120 | 14 | 81143640 | missense variant | C/A;T | snv | 4.0E-06 | 3 | ||
| rs189506473 | 1.000 | 0.120 | 14 | 81139719 | missense variant | G/A | snv | 8.7E-05 | 2.1E-05 | 1 | |
| rs761341933 | 1.000 | 0.120 | 14 | 81144124 | missense variant | T/G | snv | 4.0E-05 | 7.0E-06 | 1 | |
| rs786204790 | 1.000 | 0.120 | 14 | 81092608 | splice donor variant | TG/- | delins | 1.4E-05 | 1 | ||
| rs370991693 | 0.851 | 0.160 | 8 | 133017916 | missense variant | C/A | snv | 4.4E-05 | 2.8E-05 | 4 | |
| rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 |