Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555787599 | 0.925 | 0.080 | 20 | 427395 | missense variant | G/T | snv | 2 | |||
rs566912235 | 1.000 | 20 | 427443 | missense variant | A/G | snv | 7.0E-06 | 1 | |||
rs587777561 | 1.000 | 20 | 420904 | stop gained | C/T | snv | 1 | ||||
rs727503762 | 1.000 | 20 | 419439 | stop gained | C/T | snv | 1 | ||||
rs727503763 | 1.000 | 20 | 409979 | frameshift variant | CT/- | del | 1 | ||||
rs727503764 | 1.000 | 20 | 421007 | frameshift variant | AGTG/- | delins | 1 | ||||
rs727503765 | 1.000 | 20 | 419702 | stop gained | G/T | snv | 1 | ||||
rs730880329 | 1.000 | 20 | 419694 | frameshift variant | -/GGCG | delins | 1 | ||||
rs730880330 | 1.000 | 20 | 419671 | frameshift variant | -/GACGAGG | delins | 7.0E-06 | 1 | |||
rs780854072 | 1.000 | 20 | 427337 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 1 |