Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559101585 | 1.000 | 2 | 165991779 | frameshift variant | -/A | ins | 1 | ||||
rs1559140306 | 1.000 | 2 | 166009749 | frameshift variant | -/A | delins | 1 | ||||
rs1568932480 | 1.000 | 20 | 63442440 | frameshift variant | -/AG | delins | 1 | ||||
rs1559217391 | 1.000 | 2 | 166043973 | frameshift variant | -/G | delins | 1 | ||||
rs1564333757 | 1.000 | 9 | 127612424 | frameshift variant | -/GCTGTTGTCGG | delins | 1 | ||||
rs1559216338 | 1.000 | 2 | 166043860 | frameshift variant | -/TC | delins | 1 | ||||
rs794726695 | 0.925 | 0.040 | 2 | 166047679 | frameshift variant | A/-;AA | delins | 2 | |||
rs121917937 | 0.925 | 0.040 | 2 | 166052866 | missense variant | A/C | snv | 2 | |||
rs1553549834 | 1.000 | 2 | 166051931 | missense variant | A/C | snv | 1 | ||||
rs121917981 | 0.925 | 0.040 | 2 | 165991510 | missense variant | A/C;G | snv | 1 | |||
rs121918764 | 0.925 | 0.040 | 2 | 165996053 | stop gained | A/C;G | snv | 1 | |||
rs1554778417 | 0.925 | 0.040 | 9 | 127675802 | splice acceptor variant | A/G | snv | 2 | |||
rs121917919 | 0.925 | 0.040 | 2 | 165994236 | missense variant | A/G | snv | 1 | |||
rs1553525313 | 1.000 | 2 | 166002704 | missense variant | A/G | snv | 1 | ||||
rs1559140110 | 1.000 | 2 | 166009717 | splice donor variant | A/G | snv | 1 | ||||
rs1559238432 | 1.000 | 2 | 166051886 | missense variant | A/G | snv | 1 | ||||
rs1559245847 | 1.000 | 2 | 166054683 | missense variant | A/G | snv | 1 | ||||
rs1559105301 | 1.000 | 2 | 165992294 | frameshift variant | AG/- | delins | 1 | ||||
rs796053242 | 1.000 | 11 | 792310 | frameshift variant | AG/- | del | 8.0E-06 | 1 | |||
rs1553560760 | 1.000 | 2 | 166073439 | inframe deletion | AGGTTCTTTCCA/- | delins | 1 | ||||
rs1553519902 | 1.000 | 2 | 165991548 | inframe deletion | AGT/- | delins | 1 | ||||
rs1559200672 | 1.000 | 2 | 166038057 | frameshift variant | C/- | delins | 1 | ||||
rs1568864658 | 1.000 | 20 | 63408428 | frameshift variant | C/- | delins | 1 | ||||
rs1553546763 | 1.000 | 2 | 166046841 | stop gained | C/A | snv | 1 | ||||
rs1559140855 | 1.000 | 2 | 166009842 | splice acceptor variant | C/A | snv | 1 |