Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs398122812 | 0.925 | 0.080 | X | 154348897 | stop gained | C/T | snv | 2 | |||
rs1557175424 | 0.925 | 0.080 | X | 154350030 | splice donor variant | C/T | snv | 2 | |||
rs781910090 | 1.000 | 0.080 | X | 154351689 | stop gained | G/A;C | snv | 1.7E-05 | 1 | ||
rs1569551449 | 1.000 | 0.080 | X | 154352019 | stop gained | C/A | snv | 1 | |||
rs1060500717 | 1.000 | 0.080 | X | 154352226 | stop gained | G/A;C | snv | 1 | |||
rs112363874 | 1.000 | 0.080 | X | 154352449 | splice acceptor variant | T/A;G | snv | 1 | |||
rs1060500718 | 0.851 | 0.120 | X | 154353329 | frameshift variant | AG/- | del | 4 | |||
rs1557176315 | 0.851 | 0.120 | X | 154353914 | splice donor variant | C/G | snv | 4 | |||
rs1569551502 | 0.851 | 0.120 | X | 154353958 | frameshift variant | G/- | del | 4 | |||
rs1557177086 | 0.851 | 0.120 | X | 154357527 | frameshift variant | GTGTAGCGACCTG/- | delins | 4 | |||
rs797045044 | 0.827 | 0.240 | X | 154358228 | missense variant | C/T | snv | 9.4E-06 | 5 | ||
rs1557177279 | 0.851 | 0.120 | X | 154358440 | splice donor variant | TTACCTCC/- | delins | 4 | |||
rs1057516198 | 1.000 | 0.080 | X | 154359008 | stop gained | G/A | snv | 1 | |||
rs782426283 | 1.000 | 0.080 | X | 154359317 | missense variant | G/A | snv | 3.6E-04 | 6.6E-05 | 1 | |
rs863223299 | 1.000 | 0.080 | X | 154359402 | frameshift variant | C/- | del | 1 | |||
rs1557177485 | 0.851 | 0.120 | X | 154359407 | splice acceptor variant | C/A | snv | 4 | |||
rs1557177623 | 0.851 | 0.120 | X | 154359846 | stop gained | C/A;T | snv | 4 | |||
rs1557177636 | 0.851 | 0.120 | X | 154359897 | frameshift variant | G/- | delins | 4 | |||
rs1060500716 | 0.851 | 0.120 | X | 154360127 | missense variant | G/A | snv | 4 | |||
rs137853312 | 0.790 | 0.160 | X | 154360238 | missense variant | G/A | snv | 9.3E-06 | 5 | ||
rs1557177738 | 0.851 | 0.120 | X | 154360266 | stop gained | C/A | snv | 4 | |||
rs1569551736 | 1.000 | 0.080 | X | 154362043 | frameshift variant | C/- | del | 1 | |||
rs786205186 | 0.827 | 0.120 | X | 154362417 | splice donor variant | C/G;T | snv | 5 | |||
rs1557178535 | 0.851 | 0.120 | X | 154363633 | intron variant | A/T | snv | 4 | |||
rs137853311 | 1.000 | 0.080 | X | 154364582 | missense variant | G/A | snv | 1.1E-05 | 1 |