Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs141945265 | 1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 | 2 | |||
rs200321595 | 1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 | 2 | ||
rs397514596 | 1.000 | 8 | 132656866 | missense variant | C/G | snv | 2.7E-05 | 7.0E-06 | 2 | ||
rs397515424 | 1.000 | 8 | 132632794 | frameshift variant | TT/- | del | 2.0E-05 | 7.0E-06 | 2 | ||
rs397515425 | 1.000 | 8 | 132632816 | frameshift variant | -/T | delins | 4.0E-06 | 2 | |||
rs760123202 | 0.925 | 0.160 | 8 | 132632763 | frameshift variant | C/- | delins | 1.8E-04 | 7.0E-06 | 2 | |
rs397515461 | 1.000 | 8 | 132632831 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 1 | ||
rs750603177 | 1.000 | 8 | 132632760 | stop gained | G/A;T | snv | 3.6E-05 | 1.4E-05 | 1 | ||
rs763900107 | 1.000 | 8 | 132610256 | frameshift variant | A/-;AA | delins | 1 | ||||
rs769220870 | 1.000 | 8 | 132661558 | frameshift variant | AG/- | delins | 1.0E-04 | 1 |