Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555467473 | 1.000 | 0.120 | 16 | 28477866 | frameshift variant | -/A | delins | 1 | |||
rs1555468374 | 1.000 | 0.120 | 16 | 28484005 | splice donor variant | C/- | delins | 1 | |||
rs1555469089 | 1.000 | 0.120 | 16 | 28488663 | splice acceptor variant | C/T | snv | 1 | |||
rs1555469159 | 1.000 | 0.120 | 16 | 28489316 | frameshift variant | -/G | delins | 1 | |||
rs1555469452 | 1.000 | 0.120 | 16 | 28491481 | splice donor variant | C/- | delins | 1 | |||
rs1555469477 | 1.000 | 0.120 | 16 | 28491561 | splice acceptor variant | C/T | snv | 1 | |||
rs386833696 | 1.000 | 0.120 | 16 | 28482113 | frameshift variant | G/- | delins | 1 | |||
rs386833697 | 1.000 | 0.120 | 16 | 28482107 | stop gained | G/A | snv | 8.1E-06 | 2.1E-05 | 1 | |
rs386833699 | 1.000 | 0.120 | 16 | 28482105 | missense variant | C/G | snv | 1 | |||
rs386833700 | 1.000 | 0.120 | 16 | 28491502 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs386833701 | 1.000 | 0.120 | 16 | 28477739 | stop gained | C/A;G | snv | 4.0E-06 | 1 | ||
rs386833702 | 1.000 | 0.120 | 16 | 28477636 | splice acceptor variant | C/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs386833703 | 1.000 | 0.120 | 16 | 28477586 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs386833704 | 1.000 | 0.120 | 16 | 28491477 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs386833705 | 1.000 | 0.120 | 16 | 28489387 | splice acceptor variant | C/T | snv | 4.2E-06 | 1 | ||
rs386833706 | 1.000 | 0.120 | 16 | 28477565 | stop gained | G/A;T | snv | 8.0E-06 | 1 | ||
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 |