| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs138659167 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 20 | ||
| rs1032242817 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 17 | |
| rs1135401743 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 11 | ||
| rs1057519437 | 0.851 | 0.240 | 10 | 129957300 | missense variant | C/T | snv | 6 | |||
| rs75462234 | 0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins | 4 | |||
| rs868694193 | 1.000 | 0.120 | 1 | 204161355 | missense variant | C/T | snv | 4.1E-06 | 2 | ||
| rs121912704 | 1.000 | 0.120 | 17 | 63480479 | stop gained | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 1 | ||
| rs387906576 | 1.000 | 0.120 | 17 | 63482666 | frameshift variant | TGGA/- | del | 1 | |||
| rs397514688 | 1.000 | 0.120 | 17 | 63483172 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 | 1 | |
| rs397514689 | 1.000 | 0.120 | 17 | 63488713 | stop gained | C/T | snv | 1.6E-05 | 1 | ||
| rs778390161 | 1.000 | 0.120 | 17 | 63490953 | splice acceptor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs779188587 | 1.000 | 0.120 | 17 | 63496517 | splice donor variant | G/A;C | snv | 2.0E-05 | 1 | ||
| rs797045079 | 1.000 | 0.120 | 17 | 63477106 | frameshift variant | CTCGGGCCGCCGGGGGCCGG/- | del | 1.4E-05 | 1 | ||
| rs121912702 | 1.000 | 0.120 | 1 | 230710247 | stop gained | G/A | snv | 1 | |||
| rs387906578 | 1.000 | 0.120 | 1 | 230703309 | frameshift variant | A/-;AA | delins | 1 | |||
| rs74315283 | 1.000 | 0.120 | 1 | 230705933 | missense variant | C/A;T | snv | 8.0E-06; 2.4E-05 | 1 | ||
| rs104893677 | 1.000 | 0.120 | 3 | 148741880 | missense variant | C/T | snv | 1.4E-05 | 1 | ||
| rs387906577 | 1.000 | 0.120 | 3 | 148741144 | frameshift variant | -/T | delins | 4.0E-06; 4.0E-06 | 7.0E-06 | 1 | |
| rs397514687 | 1.000 | 0.120 | 3 | 148741411 | stop gained | C/G;T | snv | 4.1E-06; 1.6E-05 | 1 | ||
| rs121917741 | 1.000 | 0.120 | 1 | 204162117 | stop gained | G/A | snv | 4.8E-05 | 1.4E-05 | 1 | |
| rs121917742 | 1.000 | 0.120 | 1 | 204159399 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs397514690 | 1.000 | 0.120 | 1 | 204162135 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 1 | |
| rs397514691 | 1.000 | 0.120 | 1 | 204160648 | missense variant | G/T | snv | 1 |