Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80357243 | 17 | 43063885 | missense variant | A/C;G | snv | 2 | |||||
rs80358146 | 1.000 | 17 | 43104957 | splice acceptor variant | C/A;T | snv | 2 | ||||
rs886037784 | 1.000 | 17 | 43099803 | frameshift variant | A/- | del | 2 | ||||
rs886037785 | 1.000 | 17 | 43091708 | frameshift variant | TACCT/- | delins | 2 | ||||
rs886037786 | 1.000 | 17 | 43094231 | frameshift variant | -/G | delins | 2 | ||||
rs886037787 | 1.000 | 17 | 43092961 | stop gained | A/T | snv | 2 | ||||
rs886037790 | 1.000 | 17 | 43071202 | frameshift variant | A/- | delins | 2 | ||||
rs886040109 | 1.000 | 17 | 43092265 | frameshift variant | A/- | delins | 2 | ||||
rs1057518635 | 1.000 | 13 | 32340367 | frameshift variant | ATAG/- | delins | 2 | ||||
rs1057518638 | 1.000 | 13 | 32339317 | stop gained | T/A | snv | 2 | ||||
rs1131692035 | 1.000 | 13 | 32332335 | stop gained | C/G | snv | 2 | ||||
rs1555281594 | 1.000 | 13 | 32332276 | frameshift variant | -/G | delins | 2 | ||||
rs1555282830 | 1.000 | 13 | 32337109 | frameshift variant | C/- | del | 2 | ||||
rs1555283169 | 1.000 | 13 | 32337677 | stop gained | A/T | snv | 2 | ||||
rs397507643 | 1.000 | 13 | 32337181 | frameshift variant | TTAA/- | delins | 2 | ||||
rs397507644 | 1.000 | 13 | 32337198 | frameshift variant | T/- | delins | 2 | ||||
rs397507649 | 1.000 | 13 | 32337345 | stop gained | T/A;G | snv | 2 | ||||
rs397507710 | 1.000 | 13 | 32338504 | frameshift variant | T/- | delins | 2 | ||||
rs397507967 | 1.000 | 13 | 32363397 | stop gained | T/A;G | snv | 2 | ||||
rs80359603 | 1.000 | 13 | 32340907 | frameshift variant | G/- | delins | 2 | ||||
rs886037798 | 1.000 | 13 | 32340886 | frameshift variant | -/C | delins | 2 | ||||
rs886037799 | 1.000 | 13 | 32338503 | frameshift variant | AT/- | del | 2 | ||||
rs886037800 | 1.000 | 13 | 32338395 | frameshift variant | TT/-;TTT | delins | 2 | ||||
rs886037801 | 1.000 | 0.200 | 13 | 32337354 | frameshift variant | T/-;TT | delins | 2 | |||
rs886037803 | 1.000 | 13 | 32338188 | frameshift variant | TA/- | delins | 2 |