Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833707 | 1.000 | 0.120 | 16 | 28477561 | frameshift variant | C/- | delins | 1 | |||
rs386833708 | 1.000 | 0.120 | 16 | 28491759 | start lost | T/C;G | snv | 8.0E-06 | 1 | ||
rs386833710 | 1.000 | 0.120 | 16 | 28489288 | splice donor variant | A/C | snv | 1 | |||
rs386833711 | 1.000 | 0.120 | 16 | 28489285 | splice region variant | C/G | snv | 1 | |||
rs386833712 | 1.000 | 0.120 | 16 | 28488651 | frameshift variant | -/C | delins | 1 | |||
rs386833713 | 1.000 | 0.120 | 16 | 28488620 | stop gained | G/A | snv | 1 | |||
rs386833714 | 1.000 | 0.120 | 16 | 28487734 | missense variant | A/G | snv | 1 | |||
rs386833715 | 1.000 | 0.120 | 16 | 28487665 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
rs386833716 | 1.000 | 0.120 | 16 | 28487662 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs386833719 | 1.000 | 0.120 | 16 | 28487516 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs386833721 | 1.000 | 0.120 | 16 | 28486663 | non coding transcript exon variant | C/A;G;T | snv | 4.5E-06; 1.3E-05 | 1 | ||
rs386833722 | 1.000 | 0.120 | 16 | 28486651 | splice acceptor variant | C/G;T | snv | 1 | |||
rs386833723 | 1.000 | 0.120 | 16 | 28486639 | missense variant | C/G;T | snv | 4.2E-06 | 1 | ||
rs386833724 | 1.000 | 0.120 | 16 | 28486629 | stop gained | G/A;C | snv | 1 | |||
rs386833725 | 1.000 | 0.120 | 16 | 28486626 | stop gained | G/C | snv | 1 | |||
rs386833726 | 1.000 | 0.120 | 16 | 28491558 | stop gained | C/A;T | snv | 2.8E-05 | 1 | ||
rs386833727 | 1.000 | 0.120 | 16 | 28486602 | missense variant | A/G | snv | 1 | |||
rs386833728 | 1.000 | 0.120 | 16 | 28486577 | splice donor variant | C/G;T | snv | 1 | |||
rs386833729 | 1.000 | 0.120 | 16 | 28486465 | frameshift variant | CT/- | del | 1 | |||
rs386833730 | 1.000 | 0.120 | 16 | 28486464 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs386833731 | 1.000 | 0.120 | 16 | 28486459 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
rs386833733 | 1.000 | 0.120 | 16 | 28486449 | missense variant | C/T | snv | 1 | |||
rs386833735 | 1.000 | 0.120 | 16 | 28486438 | frameshift variant | C/-;CC | delins | 4.1E-06 | 1 | ||
rs386833737 | 1.000 | 0.120 | 16 | 28486393 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs386833739 | 1.000 | 0.120 | 16 | 28482472 | splice region variant | C/T | snv | 1 |