Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553156053 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 3 | ||||
rs1553212545 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 3 | ||||
rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 | ||||
rs1553666546 | 1.000 | 0.080 | 3 | 4645609 | missense variant | G/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 | |||||
rs1554236054 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 3 | ||||
rs1554884733 | 1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins | 3 | ||||
rs1555046615 | 1.000 | 11 | 118503389 | frameshift variant | A/- | del | 3 | ||||
rs1555050165 | 0.925 | 0.200 | 11 | 105926814 | missense variant | A/G | snv | 3 | |||
rs1555254256 | 1.000 | 13 | 23354906 | stop gained | C/T | snv | 3 | ||||
rs1555401440 | 1.000 | 15 | 26561149 | missense variant | G/A | snv | 3 | ||||
rs1555535739 | 1.000 | 16 | 67626653 | stop gained | C/T | snv | 3 | ||||
rs1555682938 | 1.000 | 18 | 62102822 | frameshift variant | T/- | delins | 3 | ||||
rs1555869758 | 1.000 | 0.040 | 20 | 63438654 | missense variant | T/C | snv | 3 | |||
rs1555912285 | 1.000 | 20 | 32435475 | frameshift variant | TGTTGAGC/CAA | delins | 3 | ||||
rs1555923822 | 1.000 | 22 | 42210236 | frameshift variant | -/T | delins | 3 | ||||
rs1555937168 | 1.000 | 0.080 | X | 71224099 | frameshift variant | TG/- | delins | 3 | |||
rs1555977248 | 1.000 | X | 41542781 | stop gained | T/A | snv | 3 | ||||
rs397514655 | 1.000 | 5 | 88804743 | missense variant | A/G;T | snv | 3 | ||||
rs397517076 | 0.925 | 0.160 | 11 | 119278165 | splice acceptor variant | G/C;T | snv | 3 | |||
rs587777429 | 1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv | 3 | |||
rs797044850 | 1.000 | 0.080 | 2 | 32127017 | missense variant | A/G | snv | 3 |