Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554890324 | 1.000 | 0.080 | 10 | 87864470 | start lost | A/G | snv | 1 | |||
rs587776671 | 0.790 | 0.160 | 10 | 87864506 | frameshift variant | AA/-;AAA | delins | 7 | |||
rs121909225 | 0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv | 8 | |||
rs869312778 | 1.000 | 0.080 | 10 | 87894063 | stop gained | G/T | snv | 1 | |||
rs786204855 | 1.000 | 0.080 | 10 | 87894084 | missense variant | A/G | snv | 1 | |||
rs762518389 | 0.925 | 0.080 | 10 | 87894089 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs786203847 | 0.790 | 0.160 | 10 | 87925512 | splice acceptor variant | G/A;C | snv | 8 | |||
rs398123316 | 0.851 | 0.160 | 10 | 87925530 | missense variant | A/G;T | snv | 9 | |||
rs398123317 | 0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv | 8 | |||
rs121909226 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 7 | |||
rs398123318 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 9 | |||
rs1554897280 | 1.000 | 0.080 | 10 | 87925558 | splice donor variant | G/A;T | snv | 2 | |||
rs1114167650 | 0.790 | 0.160 | 10 | 87925562 | splice region variant | G/A | snv | 8 | |||
rs1564828909 | 1.000 | 0.080 | 10 | 87931040 | splice acceptor variant | TTTTA/- | del | 1 | |||
rs1554897854 | 0.790 | 0.160 | 10 | 87931042 | splice acceptor variant | AGTT/- | delins | 7 | |||
rs1564828914 | 1.000 | 0.080 | 10 | 87931044 | splice acceptor variant | A/G | snv | 1 | |||
rs1114167621 | 0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv | 8 | |||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs1224040268 | 0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 | 12 | ||
rs1554897889 | 0.790 | 0.160 | 10 | 87931094 | splice region variant | G/A;T | snv | 7 | |||
rs1554898053 | 1.000 | 0.080 | 10 | 87933018 | stop gained | C/T | snv | 2 | |||
rs786204856 | 0.882 | 0.120 | 10 | 87933043 | missense variant | C/T | snv | 4 | |||
rs786204928 | 1.000 | 0.080 | 10 | 87933048 | stop gained | C/G;T | snv | 7.0E-06 | 1 | ||
rs1554898083 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 7 |