Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28937581 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 9 | ||
rs202218890 | 0.827 | 0.160 | 2 | 71569884 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 5 | |
rs121908955 | 0.851 | 0.160 | 2 | 71682597 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 4 | |
rs121908956 | 0.851 | 0.160 | 2 | 71564074 | missense variant | C/A;G;T | snv | 4 | |||
rs121908959 | 0.851 | 0.120 | 2 | 71674242 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
rs140108514 | 0.851 | 0.120 | 2 | 71568083 | splice donor variant | G/A | snv | 1.2E-04 | 4.5E-04 | 4 | |
rs398123763 | 0.851 | 0.120 | 2 | 71520905 | splice donor variant | G/A | snv | 2.1E-05 | 4 | ||
rs398123781 | 0.851 | 0.120 | 2 | 71590212 | stop gained | TG/AA | mnv | 4 | |||
rs746873768 | 0.851 | 0.120 | 2 | 71553092 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs758180890 | 0.851 | 0.120 | 2 | 71526295 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.4E-05 | 4 | ||
rs727503909 | 0.882 | 0.120 | 2 | 71568305 | frameshift variant | G/- | delins | 3 | |||
rs863225021 | 0.882 | 0.160 | 2 | 71665181 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs1064794020 | 0.925 | 0.120 | 2 | 71679173 | stop gained | C/T | snv | 2 | |||
rs1278864604 | 0.925 | 0.120 | 2 | 71511922 | splice donor variant | G/A | snv | 6.4E-06 | 7.0E-06 | 2 | |
rs150877497 | 0.925 | 0.120 | 2 | 71570680 | missense variant | G/A;C | snv | 5.2E-05; 4.0E-06 | 1.4E-05 | 2 | |
rs1553416039 | 0.925 | 0.120 | 2 | 71669612 | frameshift variant | A/- | del | 2 | |||
rs1553508863 | 0.925 | 0.120 | 2 | 71481888 | missense variant | T/A | snv | 2 | |||
rs1558771348 | 0.925 | 0.120 | 2 | 71665186 | frameshift variant | C/- | delins | 2 | |||
rs199543257 | 0.925 | 0.120 | 2 | 71564196 | stop gained | C/A;T | snv | 2.0E-05 | 2 | ||
rs201869739 | 0.925 | 0.120 | 2 | 71520209 | splice donor variant | G/A | snv | 3.6E-05 | 1.4E-05 | 2 | |
rs202044973 | 0.925 | 0.120 | 2 | 71535282 | stop gained | C/A;T | snv | 1.2E-05; 2.0E-05 | 2 | ||
rs369607332 | 0.925 | 0.120 | 2 | 71570679 | stop gained | C/A;T | snv | 1.6E-05; 2.4E-05 | 2 | ||
rs370874727 | 0.925 | 0.120 | 2 | 71589591 | splice acceptor variant | A/G | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs373585652 | 0.925 | 0.120 | 2 | 71513868 | stop gained | C/G;T | snv | 8.0E-06; 8.0E-06 | 2 | ||
rs398123786 | 0.925 | 0.120 | 2 | 71612667 | frameshift variant | C/-;CC | delins | 2 |