| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 22 | |
| rs775769424 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 11 | ||
| rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
| rs1166022838 | 0.925 | 0.120 | 11 | 66510675 | frameshift variant | -/C | delins | 4.0E-06 | 2 | ||
| rs376894444 | 0.925 | 0.120 | 11 | 66515586 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 2 | |
| rs587777829 | 0.925 | 0.120 | 11 | 66514679 | splice donor variant | G/A | snv | 2 | |||
| rs1057517332 | 0.925 | 0.120 | 11 | 66523454 | splice acceptor variant | A/G | snv | 4.0E-06 | 2 | ||
| rs768443448 | 0.925 | 0.120 | 11 | 66526753 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 2 | ||
| rs1057516533 | 0.925 | 0.120 | 11 | 66523842 | frameshift variant | T/- | delins | 2 | |||
| rs1060503690 | 0.925 | 0.120 | 11 | 66526708 | stop gained | G/T | snv | 2 | |||
| rs113994179 | 0.925 | 0.120 | 11 | 66523453 | splice region variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
| rs121917777 | 0.925 | 0.120 | 11 | 66531692 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
| rs587777830 | 0.925 | 0.120 | 11 | 66523476 | frameshift variant | A/- | del | 2 | |||
| rs746875134 | 0.925 | 0.120 | 11 | 66523577 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
| rs1057516449 | 1.000 | 0.120 | 11 | 66511090 | splice donor variant | G/A;C | snv | 1 | |||
| rs1057516451 | 1.000 | 0.120 | 11 | 66514469 | frameshift variant | CT/- | del | 1 | |||
| rs1057516502 | 1.000 | 0.120 | 11 | 66515859 | splice acceptor variant | A/G | snv | 1 | |||
| rs1057516507 | 1.000 | 0.120 | 11 | 66511241 | splice donor variant | T/A | snv | 1 | |||
| rs1057516933 | 1.000 | 0.120 | 11 | 66515692 | splice acceptor variant | G/C | snv | 1 | |||
| rs1057517007 | 1.000 | 0.120 | 11 | 66514426 | frameshift variant | C/- | delins | 7.0E-06 | 1 | ||
| rs113994178 | 1.000 | 0.120 | 11 | 66510646 | start lost | AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/- | delins | 1 | |||
| rs1182864166 | 1.000 | 0.120 | 11 | 66510708 | splice donor variant | T/C | snv | 4.0E-06 | 1 | ||
| rs1306821707 | 1.000 | 0.120 | 11 | 66510660 | start lost | A/C;G;T | snv | 4.0E-06 | 1 | ||
| rs1313590454 | 1.000 | 0.120 | 11 | 66511236 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs1353098253 | 1.000 | 0.120 | 11 | 66515588 | splice donor variant | T/G | snv | 2.1E-05 | 1 |