Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
rs587779349 | 0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins | 8 | |||
rs80359550 | 0.807 | 0.280 | 13 | 32340301 | frameshift variant | T/- | del | 1.8E-04 | 8 | ||
rs80359584 | 0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 | 8 | |
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 | ||
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs80359636 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 7 | ||
rs886040738 | 0.851 | 13 | 32363188 | frameshift variant | G/- | delins | 7 | ||||
rs11571658 | 0.851 | 0.240 | 13 | 32340630 | frameshift variant | TT/- | del | 2.8E-05 | 6 | ||
rs397507758 | 0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv | 6 | |||
rs80359030 | 0.851 | 13 | 32363189 | stop gained | G/A;T | snv | 4.0E-06 | 6 | |||
rs80359071 | 0.882 | 0.200 | 13 | 32363445 | missense variant | G/A | snv | 8.0E-06 | 6 | ||
rs80359180 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 6 | |||
rs80359306 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 6 | |||
rs80359351 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 6 | ||
rs80359541 | 0.882 | 0.200 | 13 | 32340183 | frameshift variant | C/- | del | 8.0E-06 | 6 | ||
rs80359596 | 0.827 | 0.240 | 13 | 32340817 | frameshift variant | TCTC/-;TC;TCTCTC | delins | 6 | |||
rs81002885 | 0.827 | 0.280 | 13 | 32316529 | splice donor variant | T/A;C;G | snv | 4.0E-06 | 6 | ||
rs886040456 | 0.882 | 0.200 | 13 | 32337325 | frameshift variant | AACAAATGGGCAG/- | delins | 6 | |||
rs276174859 | 0.851 | 0.280 | 13 | 32339964 | stop gained | TC/AG | mnv | 5 | |||
rs28897759 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs398122729 | 0.851 | 0.240 | 13 | 32333120 | stop gained | C/T | snv | 5 | |||
rs41293477 | 0.851 | 0.200 | 13 | 32337513 | stop gained | T/G | snv | 7.0E-06 | 5 | ||
rs41293489 | 0.851 | 0.240 | 13 | 32338566 | stop gained | C/A;G;T | snv | 1.3E-05 | 5 |