Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs878853325 | 0.851 | 0.240 | 1 | 40089414 | frameshift variant | C/- | delins | 6 | |||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs869312671 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 5 | |||
rs878853324 | 0.882 | 0.160 | 1 | 40078579 | missense variant | A/T | snv | 5 | |||
rs758432471 | 0.925 | 1 | 1806513 | missense variant | C/T | snv | 7.0E-06 | 4 | |||
rs869312666 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 4 | |||
rs878853322 | 0.925 | 0.160 | 1 | 40078573 | missense variant | G/A | snv | 4 | |||
rs878853323 | 0.882 | 0.160 | 1 | 40092499 | missense variant | A/G | snv | 4 | |||
rs1135401733 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 3 | |||
rs730882243 | 1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del | 3 | |||
rs794727870 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 3 | |||
rs886041300 | 1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv | 3 | |||
rs764618040 | 1.000 | 0.040 | 1 | 119726868 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
rs786204473 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 2 | |||
rs886041874 | 1.000 | 0.040 | 1 | 119721323 | splice donor variant | T/C | snv | 4.0E-06 | 2 | ||
rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 19 | ||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs1559193213 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 11 | |||
rs672601368 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 10 | |||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 8 | |||
rs1057519443 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 7 |