Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553412495 | 1.000 | 0.160 | 2 | 47799083 | missense variant | A/G | snv | 1 | |||
rs1558664787 | 1.000 | 0.160 | 2 | 47800217 | missense variant | T/A | snv | 1 | |||
rs587779294 | 1.000 | 0.160 | 2 | 47806470 | stop gained | G/A;C;T | snv | 1 | |||
rs63750832 | 1.000 | 0.160 | 2 | 47800075 | stop gained | C/A;G;T | snv | 8.0E-06 | 1 | ||
rs773226008 | 1.000 | 0.160 | 2 | 47799428 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||
rs1253275403 | 1.000 | 0.160 | 3 | 37017542 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
rs1559543768 | 1.000 | 0.160 | 3 | 37020348 | missense variant | A/C | snv | 1 | |||
rs267607713 | 0.882 | 0.160 | 3 | 36996623 | splice acceptor variant | G/C | snv | 1 | |||
rs267607738 | 1.000 | 0.160 | 3 | 37001054 | splice donor variant | -/T | delins | 1 | |||
rs267607900 | 1.000 | 0.160 | 3 | 37050645 | missense variant | A/G;T | snv | 1 | |||
rs587779950 | 1.000 | 0.160 | 3 | 36996618 | splice acceptor variant | G/A;T | snv | 1 | |||
rs63749990 | 0.925 | 0.160 | 3 | 37000985 | missense variant | T/G | snv | 1 | |||
rs63750266 | 1.000 | 0.160 | 3 | 37001046 | missense variant | G/A;C | snv | 1.6E-05 | 1 | ||
rs63751197 | 1.000 | 0.160 | 3 | 37020412 | inframe deletion | ATC/- | delins | 1 | |||
rs63751202 | 0.851 | 0.160 | 3 | 37048578 | missense variant | T/C;G | snv | 1 | |||
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1131692279 | 1.000 | 0.160 | 2 | 47471011 | frameshift variant | T/- | del | 1 | |||
rs1194793421 | 1.000 | 0.160 | 2 | 47414418 | splice donor variant | G/- | delins | 1 | |||
rs1553350250 | 1.000 | 0.160 | 2 | 47408543 | stop gained | T/G | snv | 1 | |||
rs1553367635 | 1.000 | 0.160 | 2 | 47470995 | frameshift variant | CA/- | del | 1 | |||
rs1558466577 | 1.000 | 0.160 | 2 | 47416368 | stop gained | C/T | snv | 1 | |||
rs1558466685 | 1.000 | 0.160 | 2 | 47416399 | missense variant | CT/GC | mnv | 1 | |||
rs267607982 | 1.000 | 0.160 | 2 | 47475198 | stop gained | C/G;T | snv | 1.2E-05 | 1 | ||
rs267607996 | 0.925 | 0.160 | 2 | 47476382 | missense variant | G/A;C | snv | 1 | |||
rs587779087 | 1.000 | 0.160 | 2 | 47463022 | intron variant | T/A;C | snv | 1 |