Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909227 | 0.776 | 0.240 | 10 | 87957858 | stop gained | C/T | snv | 8 | |||
rs121909241 | 0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv | 8 | |||
rs138336847 | 0.790 | 0.160 | 10 | 87952264 | splice region variant | G/A;C | snv | 4.0E-06 | 8 | ||
rs398123317 | 0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv | 8 | |||
rs587781784 | 0.790 | 0.160 | 10 | 87952116 | splice acceptor variant | A/C;G;T | snv | 8 | |||
rs587782350 | 0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv | 8 | |||
rs587782455 | 0.790 | 0.160 | 10 | 87960892 | splice acceptor variant | A/G;T | snv | 5.1E-05 | 8 | ||
rs727504114 | 0.790 | 0.160 | 10 | 87952261 | splice donor variant | T/C;G | snv | 8 | |||
rs786203847 | 0.790 | 0.160 | 10 | 87925512 | splice acceptor variant | G/A;C | snv | 8 | |||
rs886037891 | 0.790 | 0.160 | 7 | 55155917 | missense variant | G/T | snv | 4.0E-06 | 7 | ||
rs587776671 | 0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins | 7 | |||
rs121909221 | 0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv | 7 | |||
rs121909222 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 7 | |||
rs121909226 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 7 | |||
rs121909228 | 0.790 | 0.160 | 10 | 87957984 | stop gained | G/T | snv | 7 | |||
rs1554825165 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 7 | |||
rs1554825530 | 0.790 | 0.160 | 10 | 87960957 | frameshift variant | -/CT;TTCT | ins | 7 | |||
rs1554825643 | 0.790 | 0.160 | 10 | 87961107 | frameshift variant | C/- | delins | 7 | |||
rs1554897854 | 0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins | 7 | |||
rs1554897889 | 0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv | 7 | |||
rs1554898083 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 7 | |||
rs1554898085 | 0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins | 7 | |||
rs1554898242 | 0.790 | 0.160 | 10 | 87933252 | splice donor variant | G/T | snv | 7 | |||
rs1554898244 | 0.790 | 0.160 | 10 | 87933253 | splice donor variant | T/C;G | snv | 7 | |||
rs1554900675 | 0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv | 7 |