Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs1557179325 | 0.925 | 0.080 | X | 154366562 | splice region variant | C/T | snv | 4 | |||
rs137853310 | 0.925 | 0.080 | X | 154367920 | stop gained | G/A | snv | 2 | |||
rs398122812 | 0.925 | 0.080 | X | 154348897 | stop gained | C/T | snv | 2 | |||
rs370490152 | 1.000 | 0.080 | X | 154366582 | stop gained | C/A;T | snv | 3.3E-05 | 1 | ||
rs398123620 | 1.000 | 0.080 | X | 154359010 | frameshift variant | -/AT | delins | 1 | |||
rs786205177 | 1.000 | 0.080 | X | 154365487 | splice acceptor variant | C/A | snv | 1 | |||
rs786205178 | 1.000 | 0.080 | X | 154352312 | frameshift variant | ACTG/- | delins | 1 | |||
rs786205180 | 1.000 | 0.080 | X | 154366562 | frameshift variant | CTTAT/- | del | 1 | |||
rs786205181 | 1.000 | 0.080 | X | 154371109 | frameshift variant | T/- | del | 1 | |||
rs786205182 | 1.000 | 0.080 | X | 154364927 | stop gained | A/T | snv | 1 | |||
rs786205183 | 1.000 | 0.080 | X | 154364721 | splice acceptor variant | T/C | snv | 1 | |||
rs786205188 | 1.000 | 0.080 | X | 154360266 | frameshift variant | C/- | delins | 1 | |||
rs786205189 | 1.000 | 0.080 | X | 154359822 | frameshift variant | -/ACGGGCCTTGACGT | delins | 1 | |||
rs786205190 | 1.000 | 0.080 | X | 154359635 | coding sequence variant | -/TCCTGGAGGAGTGCAG | delins | 1 | |||
rs786205191 | 1.000 | 0.080 | X | 154359620 | frameshift variant | C/- | del | 1 | |||
rs786205194 | 1.000 | 0.080 | X | 154358336 | frameshift variant | GC/- | del | 1 | |||
rs786205197 | 1.000 | 0.080 | X | 154357444 | stop gained | G/T | snv | 1 | |||
rs786205198 | 1.000 | 0.080 | X | 154357436 | frameshift variant | G/- | del | 1 | |||
rs786205199 | 1.000 | 0.080 | X | 154355020 | frameshift variant | CA/- | delins | 1 | |||
rs786205201 | 1.000 | 0.080 | X | 154352795 | frameshift variant | TT/- | del | 1 | |||
rs786205202 | 1.000 | 0.080 | X | 154352370 | stop gained | C/A | snv | 1 | |||
rs786205203 | 1.000 | 0.080 | X | 154367532 | frameshift variant | -/G | delins | 1 | |||
rs786205204 | 1.000 | 0.080 | X | 154366731 | splice donor variant | C/T | snv | 1 |