Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113993961 | 1.000 | 0.080 | 8 | 31141680 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
rs1198210848 | 1.000 | 0.080 | 8 | 31058535 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs121908446 | 1.000 | 0.080 | 8 | 31157461 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 | 1 | |
rs121908447 | 1.000 | 0.080 | 8 | 31147397 | stop gained | C/T | snv | 1 | |||
rs121908448 | 1.000 | 0.080 | 8 | 31090843 | missense variant | A/T | snv | 1 | |||
rs1244318419 | 1.000 | 0.080 | 8 | 31076199 | frameshift variant | AACA/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
rs1281075870 | 1.000 | 0.080 | 8 | 31142702 | splice donor variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs1284409960 | 1.000 | 0.080 | 8 | 31147072 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
rs1303126572 | 1.000 | 0.080 | 8 | 31157509 | stop gained | C/T | snv | 7.0E-06 | 1 | ||
rs1304645785 | 1.000 | 0.080 | 8 | 31090532 | missense variant | G/A | snv | 1 | |||
rs1361270203 | 1.000 | 0.080 | 8 | 31067049 | frameshift variant | -/CT | delins | 1 | |||
rs1383589957 | 1.000 | 0.080 | 8 | 31111628 | frameshift variant | AC/- | delins | 4.0E-06 | 2.8E-05 | 1 | |
rs143916053 | 1.000 | 0.080 | 8 | 31111720 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs1554519254 | 1.000 | 0.080 | 8 | 31067035 | frameshift variant | -/AA | delins | 1 | |||
rs1554519449 | 1.000 | 0.080 | 8 | 31068326 | splice donor variant | GGTA/- | delins | 1 | |||
rs1554526707 | 1.000 | 0.080 | 8 | 31111632 | frameshift variant | -/A | delins | 1 | |||
rs1554527775 | 1.000 | 0.080 | 8 | 31116412 | stop gained | C/T | snv | 1 | |||
rs1554528411 | 1.000 | 0.080 | 8 | 31120398 | stop gained | G/A | snv | 1 | |||
rs1563331288 | 1.000 | 0.080 | 8 | 31067082 | stop gained | T/G | snv | 1 | |||
rs1563338837 | 1.000 | 0.080 | 8 | 31081138 | stop gained | G/T | snv | 1 | |||
rs1563338855 | 1.000 | 0.080 | 8 | 31081141 | frameshift variant | GA/C | delins | 1 | |||
rs1563341296 | 1.000 | 0.080 | 8 | 31085164 | splice acceptor variant | A/G | snv | 1 | |||
rs1563357741 | 1.000 | 0.080 | 8 | 31111696 | stop gained | C/T | snv | 1 | |||
rs1563376347 | 1.000 | 0.080 | 8 | 31141456 | stop gained | T/A | snv | 1 | |||
rs1563376526 | 1.000 | 0.080 | 8 | 31141564 | stop gained | T/G | snv | 1 |