Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516689 | 0.925 | 0.160 | 13 | 23336737 | frameshift variant | T/- | delins | 7.0E-06 | 2 | ||
rs1160357920 | 0.925 | 0.160 | 13 | 23339132 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs1259615333 | 0.925 | 0.160 | 13 | 23340970 | frameshift variant | GTCT/- | delins | 7.0E-06 | 2 | ||
rs145766983 | 0.925 | 0.160 | 13 | 23336603 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs281865117 | 0.925 | 0.160 | 13 | 23335032 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 | 2 | |
rs374128662 | 0.925 | 0.160 | 13 | 23355798 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs752059006 | 1.000 | 0.160 | 13 | 23353788 | stop gained | G/A;C | snv | 1.6E-05; 1.2E-05 | 2 | ||
rs767871841 | 0.925 | 0.160 | 13 | 23335083 | frameshift variant | T/-;TT | delins | 2 | |||
rs780247476 | 0.925 | 0.160 | 13 | 23332970 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 2 | |
rs1028098148 | 1.000 | 0.160 | 13 | 23335973 | frameshift variant | A/- | del | 4.0E-06 | 1 | ||
rs1057516222 | 1.000 | 0.160 | 13 | 23339837 | frameshift variant | G/- | del | 1 | |||
rs1057516224 | 1.000 | 0.160 | 13 | 23354536 | frameshift variant | G/- | delins | 1 | |||
rs1057516285 | 1.000 | 0.160 | 13 | 23339116 | frameshift variant | T/- | del | 1 | |||
rs1057516294 | 1.000 | 0.160 | 13 | 23339405 | frameshift variant | TGCATTT/- | delins | 1 | |||
rs1057516295 | 1.000 | 0.160 | 13 | 23337556 | frameshift variant | A/- | delins | 1 | |||
rs1057516347 | 1.000 | 0.160 | 13 | 23331336 | frameshift variant | T/- | delins | 1 | |||
rs1057516365 | 1.000 | 0.160 | 13 | 23355383 | frameshift variant | AA/- | delins | 1 | |||
rs1057516398 | 1.000 | 0.160 | 13 | 23332691 | stop gained | G/A | snv | 1 | |||
rs1057516406 | 1.000 | 0.160 | 13 | 23355334 | frameshift variant | -/AA | delins | 1 | |||
rs1057516438 | 1.000 | 0.160 | 13 | 23336352 | frameshift variant | TTCT/- | delins | 1 | |||
rs1057516464 | 1.000 | 0.160 | 13 | 23334045 | frameshift variant | GTCTTTTAGAGTAT/- | del | 1 | |||
rs1057516543 | 1.000 | 0.160 | 13 | 23354931 | frameshift variant | C/- | del | 1 | |||
rs1057516551 | 1.000 | 0.160 | 13 | 23340680 | frameshift variant | AA/- | delins | 1 | |||
rs1057516554 | 1.000 | 0.160 | 13 | 23341692 | splice acceptor variant | T/C | snv | 1 | |||
rs1057516578 | 1.000 | 0.160 | 13 | 23333012 | stop gained | G/A;C | snv | 4.0E-06 | 1 |