| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs374718437 | 5 | 13708118 | splice region variant | C/T | snv | 2.0E-05 | 7.0E-06 | 1 | |||
| rs1554017211 | 5 | 13708123 | frameshift variant | T/- | delins | 1 | |||||
| rs1060501467 | 5 | 13708130 | stop gained | C/A;T | snv | 1 | |||||
| rs727502971 | 5 | 13708264 | frameshift variant | GTCT/- | delins | 2.0E-05 | 2.8E-05 | 1 | |||
| rs863224503 | 5 | 13708337 | splice acceptor variant | T/G | snv | 1 | |||||
| rs1370489117 | 5 | 13714470 | frameshift variant | C/- | delins | 1 | |||||
| rs1561097225 | 5 | 13714621 | splice acceptor variant | C/G | snv | 1 | |||||
| rs372118787 | 1.000 | 0.160 | 5 | 13717403 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs1554020233 | 5 | 13717420 | frameshift variant | -/T | delins | 1 | |||||
| rs886059965 | 5 | 13717434 | stop gained | G/A;C | snv | 1 | |||||
| rs1484826593 | 5 | 13718880 | splice donor variant | A/C;T | snv | 1 | |||||
| rs1060501456 | 5 | 13721014 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs1561122898 | 5 | 13727633 | stop gained | C/T | snv | 1 | |||||
| rs1060501464 | 1.000 | 0.160 | 5 | 13735167 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs756032160 | 5 | 13735239 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 1 | |||
| rs1554033855 | 5 | 13751077 | splice donor variant | C/T | snv | 1 | |||||
| rs769691189 | 5 | 13752252 | frameshift variant | A/- | del | 4.0E-06 | 1.4E-05 | 1 | |||
| rs1283070426 | 5 | 13753247 | stop gained | G/A | snv | 4.0E-06 | 1 | ||||
| rs1353723750 | 5 | 13753249 | frameshift variant | CTTT/- | delins | 4.0E-06 | 1 | ||||
| rs397515540 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 2 | |
| rs769458738 | 5 | 13753489 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 1 | |||
| rs1304504006 | 5 | 13753490 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 1 | |||
| rs1554035330 | 5 | 13754254 | frameshift variant | T/- | delins | 1 | |||||
| rs571919972 | 1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 | 2 | |
| rs755407407 | 0.925 | 0.160 | 5 | 13762777 | missense variant | C/G | snv | 8.0E-06 | 7.0E-06 | 3 |