Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80357481 | 0.882 | 0.200 | 17 | 43094317 | stop gained | G/C;T | snv | 5 | |||
rs80357635 | 0.882 | 0.200 | 17 | 43092302 | frameshift variant | CT/- | delins | 4.0E-06 | 5 | ||
rs80357888 | 0.882 | 0.200 | 17 | 43094023 | frameshift variant | ATTTA/- | delins | 5 | |||
rs273898674 | 0.925 | 0.200 | 17 | 43093472 | stop gained | G/A | snv | 4 | |||
rs397509173 | 0.925 | 0.200 | 17 | 43104120 | splice donor variant | A/C;G;T | snv | 4 | |||
rs587781632 | 0.925 | 0.200 | 17 | 43106476 | splice donor variant | A/C;T | snv | 4 | |||
rs80357006 | 0.925 | 0.200 | 17 | 43092274 | stop gained | A/C;G;T | snv | 1.2E-05 | 4 | ||
rs80357303 | 0.925 | 0.200 | 17 | 43071113 | stop gained | T/A;G | snv | 4.0E-06 | 4 | ||
rs80357310 | 0.925 | 0.200 | 17 | 43091870 | stop gained | C/A;G | snv | 4.0E-06 | 4 | ||
rs80357498 | 0.925 | 0.200 | 17 | 43115744 | missense variant | C/A;T | snv | 4 | |||
rs80357580 | 0.925 | 0.200 | 17 | 43067649 | stop gained | GTTA/-;GTTAGTTA | delins | 7.0E-06 | 4 | ||
rs80357701 | 0.925 | 0.200 | 17 | 43092197 | frameshift variant | GCTT/- | delins | 4 | |||
rs80357706 | 0.925 | 0.200 | 17 | 43093125 | frameshift variant | CA/- | delins | 4.0E-06 | 4 | ||
rs80357714 | 0.925 | 0.200 | 17 | 43094150 | frameshift variant | -/T | delins | 4 | |||
rs80357724 | 0.925 | 0.200 | 17 | 43094732 | frameshift variant | AA/-;A;AAA | delins | 4 | |||
rs80357772 | 0.925 | 0.200 | 17 | 43094549 | frameshift variant | AT/- | del | 4 | |||
rs80357787 | 0.925 | 0.200 | 17 | 43091008 | frameshift variant | TC/- | delins | 4 | |||
rs80357973 | 0.925 | 0.200 | 17 | 43045793 | splice acceptor variant | CCAATTGC/-;CCAATTGCCCAATTGC | delins | 4 | |||
rs1057518636 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 3 | ||||
rs398122630 | 0.925 | 0.200 | 17 | 43094204 | stop gained | T/A | snv | 3 | |||
rs80357718 | 0.925 | 0.200 | 17 | 43071198 | frameshift variant | AAGAG/- | delins | 3 | |||
rs80357760 | 0.925 | 0.120 | 17 | 43063941 | frameshift variant | AA/-;AAA | delins | 3 | |||
rs1057517590 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 2 | ||||
rs1060505051 | 1.000 | 17 | 43091883 | frameshift variant | AAGTT/- | delins | 2 | ||||
rs1555581104 | 1.000 | 17 | 43071235 | frameshift variant | CC/- | delins | 2 |