Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1233811324 | 6 | 43645215 | stop gained | C/A | snv | 1.2E-05 | 1 | ||||
rs1436804091 | 6 | 43650430 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
rs775136764 | 6 | 43650369 | splice region variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs397515488 | 1.000 | 0.120 | 6 | 43645150 | stop gained | C/T | snv | 1 | |||
rs397515340 | 0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 | 3 |