Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555518210 | 1.000 | 0.080 | 16 | 68833288 | splice acceptor variant | A/G | snv | 2 | |||
rs1555518211 | 1.000 | 0.080 | 16 | 68833296 | stop gained | A/G;T | snv | 2 | |||
rs1555518221 | 1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins | 2 | |||
rs1555518239 | 1.000 | 0.080 | 16 | 68833356 | stop gained | G/T | snv | 2 | |||
rs267606712 | 1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv | 2 | |||
rs587780113 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv | 2 | |||
rs587780784 | 1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 | 2 | ||
rs587780787 | 1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 | 2 | ||
rs587781276 | 1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins | 2 | |||
rs587781290 | 1.000 | 0.080 | 16 | 68808552 | frameshift variant | -/A | delins | 2 | |||
rs587782750 | 1.000 | 0.080 | 16 | 68822210 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
rs587783047 | 1.000 | 0.080 | 16 | 68801693 | stop gained | C/T | snv | 2 | |||
rs587783048 | 1.000 | 0.080 | 16 | 68829753 | frameshift variant | C/- | delins | 2 | |||
rs587783050 | 1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv | 2 | |||
rs786201058 | 1.000 | 0.080 | 16 | 68738324 | stop gained | G/C;T | snv | 2 | |||
rs786202033 | 1.000 | 0.080 | 16 | 68823461 | frameshift variant | C/- | del | 2 | |||
rs786202151 | 1.000 | 0.080 | 16 | 68801708 | frameshift variant | T/- | del | 2 | |||
rs786202785 | 1.000 | 0.080 | 16 | 68828281 | stop gained | G/A;T | snv | 2 | |||
rs786203089 | 1.000 | 0.080 | 16 | 68819425 | splice donor variant | TAAGGG/- | delins | 2 | |||
rs786203576 | 1.000 | 0.080 | 16 | 68738308 | stop gained | G/A | snv | 2 | |||
rs786203752 | 1.000 | 0.080 | 16 | 68829785 | frameshift variant | T/- | delins | 2 | |||
rs876658261 | 1.000 | 0.080 | 16 | 68815681 | frameshift variant | CGAGGAC/- | delins | 2 | |||
rs876658575 | 1.000 | 0.080 | 16 | 68828302 | stop gained | C/T | snv | 2 | |||
rs876658865 | 1.000 | 0.080 | 16 | 68738372 | frameshift variant | CCC/T | delins | 2 | |||
rs876659208 | 1.000 | 0.080 | 16 | 68815666 | frameshift variant | AG/- | delins | 2 |