Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854568 | 0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv | 5 | |||
rs587779352 | 0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins | 5 | |||
rs587782868 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 5 | ||
rs137854572 | 0.882 | 0.120 | 5 | 112828001 | stop gained | C/T | snv | 4 | |||
rs150973053 | 0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 | 4 | |
rs876658355 | 0.925 | 0.120 | 5 | 112835073 | stop gained | C/A;G;T | snv | 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 | |||
rs137854567 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 3 | ||
rs137854569 | 0.882 | 0.120 | 5 | 112815499 | stop gained | C/G;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 | |||
rs41115 | 0.882 | 0.160 | 5 | 112840073 | synonymous variant | G/A | snv | 0.65 | 0.59 | 3 | |
rs465899 | 0.882 | 0.160 | 5 | 112841474 | synonymous variant | G/A | snv | 0.65 | 0.60 | 3 | |
rs559510809 | 0.882 | 0.120 | 5 | 112819294 | stop gained | G/A;T | snv | 4.0E-06 | 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 |