Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397516411 | 0.925 | 0.160 | 7 | 107661637 | splice acceptor variant | A/G | snv | 1.2E-04 | 2.7E-04 | 2 | |
| rs786204426 | 1.000 | 0.160 | 7 | 107661644 | start lost | G/C | snv | 7.0E-06 | 1 | ||
| rs1057516634 | 1.000 | 0.160 | 7 | 107661696 | frameshift variant | A/- | del | 2.1E-05 | 1 | ||
| rs397516430 | 1.000 | 0.160 | 7 | 107661709 | stop gained | C/A;T | snv | 1 | |||
| rs539699299 | 0.851 | 0.160 | 7 | 107661725 | missense variant | C/A;G | snv | 4 | |||
| rs111033205 | 0.882 | 0.240 | 7 | 107661726 | stop gained | G/C;T | snv | 9.3E-05; 6.2E-06 | 4 | ||
| rs201636911 | 1.000 | 0.160 | 7 | 107661783 | stop gained | G/A;T | snv | 3.5E-05 | 1 | ||
| rs786204504 | 1.000 | 0.160 | 7 | 107661805 | splice donor variant | G/- | delins | 1 | |||
| rs397516420 | 1.000 | 0.160 | 7 | 107661807 | splice donor variant | T/A;C | snv | 1 | |||
| rs786204458 | 1.000 | 0.160 | 7 | 107663294 | splice acceptor variant | A/G | snv | 1 | |||
| rs111033200 | 1.000 | 0.160 | 7 | 107663301 | stop gained | C/A;G | snv | 1.2E-05 | 1 | ||
| rs1345175795 | 1.000 | 0.160 | 7 | 107663358 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
| rs786204581 | 0.925 | 0.160 | 7 | 107663366 | stop gained | C/T | snv | 3 | |||
| rs1057516658 | 1.000 | 0.160 | 7 | 107663380 | stop gained | G/A | snv | 1 | |||
| rs1554352718 | 1.000 | 0.160 | 7 | 107663390 | missense variant | G/T | snv | 1 | |||
| rs370588279 | 0.925 | 0.160 | 7 | 107663400 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-05 | 2 | ||
| rs786204421 | 1.000 | 0.160 | 7 | 107663410 | frameshift variant | T/- | del | 4.0E-06 | 3.5E-05 | 1 | |
| rs1057516953 | 0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
| rs111033241 | 1.000 | 0.160 | 7 | 107663423 | frameshift variant | CACGC/- | delins | 1 | |||
| rs1219724284 | 1.000 | 0.160 | 7 | 107663435 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
| rs746238617 | 1.000 | 0.160 | 7 | 107663437 | splice donor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1442599990 | 1.000 | 0.160 | 7 | 107672147 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs145254330 | 0.925 | 0.160 | 7 | 107672182 | missense variant | C/T | snv | 3.3E-04 | 1.7E-04 | 2 | |
| rs1275009555 | 1.000 | 0.160 | 7 | 107672182 | frameshift variant | C/- | del | 7.0E-06 | 1 | ||
| rs786204730 | 1.000 | 0.160 | 7 | 107672192 | frameshift variant | -/T | delins | 1 |