Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1018140779 | 1.000 | 0.200 | 11 | 108329097 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
rs1057516229 | 1.000 | 0.200 | 11 | 108347367 | splice donor variant | T/C | snv | 1 | |||
rs1057516235 | 1.000 | 0.200 | 11 | 108327760 | splice donor variant | T/G | snv | 1 | |||
rs1057516238 | 1.000 | 0.200 | 11 | 108287599 | splice acceptor variant | G/T | snv | 2 | |||
rs1057516250 | 1.000 | 0.200 | 11 | 108271323 | frameshift variant | -/A | delins | 1 | |||
rs1057516282 | 1.000 | 0.200 | 11 | 108365400 | frameshift variant | -/G | delins | 2 | |||
rs1057516301 | 1.000 | 0.200 | 11 | 108279519 | frameshift variant | -/C | delins | 1 | |||
rs1057516311 | 1.000 | 0.200 | 11 | 108289611 | stop gained | C/T | snv | 1 | |||
rs1057516358 | 1.000 | 0.200 | 11 | 108299838 | stop gained | GA/AC | mnv | 1 | |||
rs1057516393 | 1.000 | 0.200 | 11 | 108256251 | frameshift variant | -/T | delins | 1 | |||
rs1057516442 | 1.000 | 0.200 | 11 | 108245002 | stop gained | A/T | snv | 1 | |||
rs1057516446 | 1.000 | 0.200 | 11 | 108279555 | frameshift variant | AACA/- | delins | 1 | |||
rs1057516525 | 1.000 | 0.200 | 11 | 108315913 | splice donor variant | T/C | snv | 1 | |||
rs1057516537 | 1.000 | 0.200 | 11 | 108365081 | splice acceptor variant | G/T | snv | 1 | |||
rs1057516540 | 1.000 | 0.200 | 11 | 108302846 | splice acceptor variant | CTAGTTTT/- | delins | 1 | |||
rs1057516541 | 1.000 | 0.200 | 11 | 108284359 | frameshift variant | -/A | delins | 2 | |||
rs1057516553 | 1.000 | 0.200 | 11 | 108258984 | splice acceptor variant | A/G | snv | 2 | |||
rs1057516590 | 1.000 | 0.200 | 11 | 108271396 | frameshift variant | G/- | delins | 1 | |||
rs1057516599 | 1.000 | 0.200 | 11 | 108332853 | frameshift variant | A/- | del | 4.0E-06 | 1 | ||
rs1057516620 | 1.000 | 0.200 | 11 | 108256225 | stop gained | C/G | snv | 1 | |||
rs1057516683 | 1.000 | 0.200 | 11 | 108244042 | frameshift variant | A/- | delins | 1 | |||
rs1057516721 | 1.000 | 0.200 | 11 | 108251970 | frameshift variant | TT/- | del | 1 | |||
rs1057516760 | 1.000 | 0.200 | 11 | 108302989 | frameshift variant | -/A | delins | 1 | |||
rs1057516876 | 1.000 | 0.200 | 11 | 108251883 | frameshift variant | C/- | delins | 1 | |||
rs1057516905 | 1.000 | 0.200 | 11 | 108321327 | frameshift variant | -/GC | delins | 1 |