Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1291398331 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 2 | ||
rs1320543506 | 0.925 | 0.080 | 1 | 179575760 | frameshift variant | -/C | delins | 2 | |||
rs1490010141 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
rs1553315173 | 0.925 | 0.080 | 1 | 179564795 | splice acceptor variant | T/C | snv | 2 | |||
rs1553316575 | 0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del | 2 | |||
rs1553316611 | 0.925 | 0.080 | 1 | 179575698 | frameshift variant | -/C | delins | 2 | |||
rs1553316648 | 0.925 | 0.080 | 1 | 179575763 | frameshift variant | T/CC | delins | 2 | |||
rs1558355124 | 0.925 | 0.080 | 1 | 179575698 | frameshift variant | T/- | del | 2 | |||
rs199506378 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs528833893 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 2 | |||
rs74315345 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 2 | |||
rs74315346 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 2 | |||
rs74315347 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs74315348 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 2 | ||
rs755972674 | 0.925 | 0.080 | 1 | 179561355 | stop gained | G/A | snv | 8.0E-06 | 2 | ||
rs762631237 | 0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 | 2 | ||
rs763818901 | 0.925 | 0.080 | 1 | 179551361 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs775170915 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 2 | ||
rs776016942 | 0.925 | 0.080 | 1 | 179551452 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs778055996 | 0.925 | 0.080 | 1 | 179557122 | stop gained | G/A;C | snv | 1.2E-05; 8.4E-05 | 2 | ||
rs786204583 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 2 | |||
rs786204708 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 2 | |||
rs869312746 | 0.925 | 0.080 | 1 | 179575750 | stop gained | G/A | snv | 2 |