Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs118203478 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 5 | |||
rs118203682 | 0.882 | 0.160 | 9 | 132902640 | stop gained | G/A | snv | 5 | |||
rs118203631 | 0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv | 4 | |||
rs118203707 | 0.925 | 0.200 | 9 | 132900828 | frameshift variant | TTTG/- | delins | 4 | |||
rs118203427 | 0.882 | 0.200 | 9 | 132921418 | stop gained | G/A | snv | 3 | |||
rs118203434 | 0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv | 3 | |||
rs118203542 | 0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv | 3 | |||
rs1564488264 | 0.882 | 0.200 | 9 | 132911110 | frameshift variant | T/- | del | 3 | |||
rs118203728 | 1.000 | 0.120 | 9 | 132897544 | stop gained | G/A | snv | 2 | |||
rs1057519319 | 1.000 | 0.120 | 9 | 132902727 | stop gained | C/A | snv | 1 | |||
rs1060503210 | 1.000 | 0.120 | 9 | 132906060 | frameshift variant | G/- | delins | 1 | |||
rs1060503213 | 1.000 | 0.120 | 9 | 132903694 | frameshift variant | T/- | delins | 1 | |||
rs1060503224 | 1.000 | 0.120 | 9 | 132902604 | splice donor variant | C/G | snv | 1 | |||
rs1064796237 | 1.000 | 0.120 | 9 | 132906781 | frameshift variant | A/-;AA | delins | 1 | |||
rs118203345 | 1.000 | 0.120 | 9 | 132927229 | missense variant | A/C;G | snv | 1 | |||
rs118203352 | 1.000 | 0.120 | 9 | 132925741 | splice acceptor variant | T/G | snv | 1 | |||
rs118203353 | 1.000 | 0.120 | 9 | 132925740 | splice acceptor variant | C/A;T | snv | 1 | |||
rs118203360 | 1.000 | 0.120 | 9 | 132925678 | frameshift variant | AG/- | delins | 1 | |||
rs118203362 | 1.000 | 0.120 | 9 | 132925673 | frameshift variant | -/T;TT | delins | 1 | |||
rs118203372 | 1.000 | 0.120 | 9 | 132925586 | splice donor variant | C/A;T | snv | 1 | |||
rs118203380 | 1.000 | 0.120 | 9 | 132923450 | frameshift variant | ACACCAAGACGC/TG | delins | 1 | |||
rs118203384 | 1.000 | 0.120 | 9 | 132923411 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
rs118203396 | 1.000 | 0.120 | 9 | 132921943 | missense variant | A/G | snv | 1 | |||
rs118203419 | 1.000 | 0.120 | 9 | 132921818 | splice donor variant | C/T | snv | 1 | |||
rs118203423 | 1.000 | 0.120 | 9 | 132921437 | splice acceptor variant | C/G;T | snv | 1 |