Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs118203915 | 1.000 | 0.120 | 16 | 71572224 | stop gained | G/C | snv | 1 | |||
rs118203916 | 1.000 | 0.120 | 16 | 71568260 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
rs1555537871 | 1.000 | 0.120 | 16 | 71572326 | splice acceptor variant | T/C | snv | 1 | |||
rs587776512 | 1.000 | 0.120 | 16 | 71576031 | splice region variant | T/C | snv | 1 | |||
rs761817519 | 1.000 | 0.120 | 16 | 71568212 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs113758103 | 1.000 | 0.120 | 16 | 71570267 | splice donor variant | A/G;T | snv | 1 | |||
rs118203914 | 1.000 | 0.120 | 16 | 71576247 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1426882225 | 1.000 | 0.120 | 16 | 71576415 | start lost | T/C | snv | 4.0E-06 | 1 | ||
rs1555537662 | 1.000 | 0.120 | 16 | 71569853 | splice donor variant | C/A | snv | 1 | |||
rs1555537673 | 1.000 | 0.120 | 16 | 71569932 | frameshift variant | A/- | del | 1 | |||
rs1555537741 | 1.000 | 0.120 | 16 | 71570667 | splice donor variant | TATTATCACCTCATTGCCA/- | delins | 1 | |||
rs1555537814 | 1.000 | 0.120 | 16 | 71571659 | splice acceptor variant | C/T | snv | 1 | |||
rs1555538138 | 1.000 | 0.120 | 16 | 71575920 | splice donor variant | A/G | snv | 1 | |||
rs1555538156 | 1.000 | 0.120 | 16 | 71576238 | frameshift variant | -/A | delins | 1 | |||
rs587776511 | 1.000 | 0.120 | 16 | 71569894 | missense variant | C/A | snv | 1 | |||
rs746077579 | 1.000 | 0.120 | 16 | 71576189 | frameshift variant | -/G | delins | 7.0E-06 | 1 | ||
rs748924248 | 1.000 | 0.120 | 16 | 71576180 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs775488556 | 1.000 | 0.120 | 16 | 71568211 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 1 |