Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517565 | 0.925 | 0.200 | 13 | 32338925 | frameshift variant | TTTC/- | del | 2 | |||
rs1057517566 | 0.925 | 0.200 | 13 | 32337431 | frameshift variant | AA/- | del | 2 | |||
rs1057517572 | 0.925 | 0.200 | 13 | 32319315 | frameshift variant | -/T | delins | 2 | |||
rs1057518639 | 0.925 | 0.200 | 17 | 43070951 | missense variant | A/G | snv | 2 | |||
rs1057519364 | 1.000 | 0.200 | 11 | 108253839 | stop gained | G/T | snv | 1 | |||
rs1057519558 | 0.925 | 0.200 | 17 | 43082518 | stop gained | C/A;G;T | snv | 2 | |||
rs1057519559 | 0.925 | 0.200 | 13 | 32339514 | frameshift variant | AACA/- | delins | 2 | |||
rs1060502327 | 0.925 | 0.200 | 17 | 43099877 | splice acceptor variant | C/- | delins | 2 | |||
rs1060502332 | 0.925 | 0.200 | 17 | 43093401 | frameshift variant | A/TT | delins | 2 | |||
rs1060502333 | 0.882 | 0.200 | 17 | 43093322 | frameshift variant | T/- | delins | 3 | |||
rs1060502334 | 0.925 | 0.200 | 17 | 43093258 | stop gained | A/T | snv | 2 | |||
rs1060502345 | 0.925 | 0.200 | 17 | 43091465 | frameshift variant | GAT/A | delins | 2 | |||
rs1060502354 | 0.925 | 0.200 | 17 | 43093214 | frameshift variant | GTACCAA/- | del | 2 | |||
rs1060502356 | 0.925 | 0.200 | 17 | 43057046 | splice donor variant | ACCTTT/- | delins | 2 | |||
rs1060502359 | 0.925 | 0.200 | 17 | 43094643 | frameshift variant | GTCT/- | delins | 2 | |||
rs1060502360 | 0.925 | 0.200 | 17 | 43094787 | frameshift variant | G/- | delins | 2 | |||
rs1060502362 | 0.925 | 0.200 | 17 | 43099855 | frameshift variant | GTTGGACA/- | delins | 2 | |||
rs1060502376 | 1.000 | 0.200 | 13 | 32319076 | splice acceptor variant | G/A;C;T | snv | 2 | |||
rs1060502385 | 0.925 | 0.200 | 13 | 32332376 | frameshift variant | GTA/TT | delins | 2 | |||
rs1060502391 | 0.925 | 0.200 | 13 | 32337329 | frameshift variant | A/- | delins | 2 | |||
rs1060502392 | 0.925 | 0.200 | 13 | 32340925 | frameshift variant | A/- | delins | 2 | |||
rs1060502395 | 0.925 | 0.200 | 13 | 32326146 | frameshift variant | G/- | del | 2 | |||
rs1060502400 | 0.925 | 0.200 | 13 | 32340575 | frameshift variant | C/- | del | 2 | |||
rs1060502403 | 0.925 | 0.200 | 13 | 32332670 | frameshift variant | C/- | del | 2 | |||
rs1060502414 | 0.925 | 0.200 | 13 | 32336945 | stop gained | C/T | snv | 2 |