Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554898085 | 0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins | 7 | |||
rs1554825530 | 0.790 | 0.160 | 10 | 87960957 | frameshift variant | -/CT;TTCT | ins | 7 | |||
rs1554898083 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 7 | |||
rs587776669 | 0.790 | 0.160 | 10 | 87957914 | frameshift variant | A/- | del | 7 | |||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs1060500126 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 8 | |||
rs587781784 | 0.790 | 0.160 | 10 | 87952116 | splice acceptor variant | A/C;G;T | snv | 8 | |||
rs121909222 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 13 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs587782455 | 0.790 | 0.160 | 10 | 87960892 | splice acceptor variant | A/G;T | snv | 5.1E-05 | 8 | ||
rs1554900675 | 0.790 | 0.160 | 10 | 87952263 | splice region variant | A/T | snv | 7 | |||
rs587776671 | 0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins | 7 | |||
rs587776666 | 0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del | 7 | |||
rs398123318 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 9 | |||
rs1554897854 | 0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins | 7 | |||
rs1554825643 | 0.790 | 0.160 | 10 | 87961107 | frameshift variant | C/- | delins | 7 | |||
rs587776670 | 0.790 | 0.160 | 10 | 87952211 | frameshift variant | C/- | del | 7.0E-06 | 7 | ||
rs587776673 | 0.790 | 0.160 | 10 | 87952130 | frameshift variant | C/- | delins | 7 | |||
rs1554825165 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 7 | |||
rs863224909 | 0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv | 14 | |||
rs121909232 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 9 | ||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 |