Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854580 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 4 | ||
rs1019221239 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 3 | ||
rs1060503323 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 3 | |||
rs1060503333 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 3 | |||
rs1114167569 | 0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv | 3 | |||
rs1114167594 | 0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins | 3 | |||
rs1131691143 | 0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins | 3 | |||
rs137854577 | 0.925 | 0.120 | 5 | 112780901 | stop gained | C/T | snv | 3 | |||
rs376213437 | 0.925 | 0.120 | 5 | 112767256 | stop gained | T/A;C;G | snv | 4.0E-06; 4.0E-05 | 3 | ||
rs387906239 | 0.925 | 0.120 | 5 | 112818969 | frameshift variant | GA/- | del | 3 | |||
rs397514031 | 0.925 | 0.120 | 5 | 112775628 | splice acceptor variant | G/A;C | snv | 3 | |||
rs397515735 | 0.925 | 0.120 | 5 | 112815554 | frameshift variant | CT/- | delins | 3 | |||
rs398123121 | 0.925 | 0.120 | 5 | 112839576 | stop gained | C/T | snv | 3 | |||
rs587779353 | 0.925 | 0.120 | 5 | 112838793 | frameshift variant | TCAA/- | delins | 3 | |||
rs587779780 | 0.925 | 0.120 | 5 | 112819245 | stop gained | C/T | snv | 7.0E-06 | 3 | ||
rs587779783 | 0.925 | 0.120 | 5 | 112838007 | stop gained | C/G;T | snv | 3 | |||
rs587781330 | 0.925 | 0.120 | 5 | 112841528 | frameshift variant | ACAA/- | delins | 3 | |||
rs587781694 | 0.925 | 0.120 | 5 | 112766335 | frameshift variant | ACAA/- | delins | 3 | |||
rs587781809 | 0.925 | 0.120 | 5 | 112766412 | splice donor variant | T/A;C | snv | 3 | |||
rs587782557 | 0.925 | 0.120 | 5 | 112775632 | frameshift variant | AT/- | del | 3 | |||
rs587783029 | 0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv | 3 | |||
rs775126020 | 0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv | 3 | |||
rs864622228 | 0.925 | 0.120 | 5 | 112841416 | frameshift variant | CAGA/- | delins | 3 | |||
rs876658355 | 0.925 | 0.120 | 5 | 112835073 | stop gained | C/A;G;T | snv | 3 | |||
rs876658941 | 0.925 | 0.120 | 5 | 112766410 | stop gained | G/A;C;T | snv | 3 |