Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553212545 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 3 | ||||
rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 | ||||
rs1553352926 | 0.925 | 2 | 60545969 | splice donor variant | A/G | snv | 3 | ||||
rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
rs1553521389 | 1.000 | 2 | 224503679 | frameshift variant | AG/- | delins | 3 | ||||
rs1554109707 | 1.000 | 5 | 180613051 | missense variant | C/G;T | snv | 3 | ||||
rs1554117456 | 1.000 | 5 | 37245569 | stop gained | C/A | snv | 3 | ||||
rs1554122252 | 1.000 | 6 | 33443341 | frameshift variant | CT/- | delins | 3 | ||||
rs1554129039 | 1.000 | 5 | 140114334 | frameshift variant | A/- | del | 3 | ||||
rs1554139771 | 5 | 88804732 | stop gained | CA/- | delins | 3 | |||||
rs1554708787 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 3 | ||||
rs1554728529 | 1.000 | 9 | 136508989 | frameshift variant | A/- | del | 3 | ||||
rs1554884733 | 1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins | 3 | ||||
rs1554944527 | 1.000 | 11 | 687999 | stop gained | G/T | snv | 3 | ||||
rs1555248020 | 1.000 | 12 | 116009052 | stop gained | G/C | snv | 3 | ||||
rs1555254256 | 1.000 | 13 | 23354906 | stop gained | C/T | snv | 3 | ||||
rs1555314736 | 1.000 | 14 | 21402335 | splice donor variant | C/T | snv | 3 | ||||
rs1555377234 | 1.000 | 14 | 77025641 | frameshift variant | A/- | delins | 3 | ||||
rs1555392032 | 1.000 | 15 | 38339805 | frameshift variant | -/A | delins | 3 | ||||
rs1555401440 | 1.000 | 15 | 26561149 | missense variant | G/A | snv | 3 | ||||
rs1555528558 | 1.000 | 16 | 89283207 | frameshift variant | -/T | delins | 3 |