Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs869025561 | 1.000 | 0.080 | 11 | 32392755 | missense variant | C/A | snv | 1 | |||
rs1553312833 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 2 | |||
rs775006954 | 0.925 | 0.080 | 1 | 179554491 | missense variant | A/T | snv | 1.6E-05 | 1.0E-04 | 2 | |
rs1057516395 | 0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del | 2 | |||
rs1057516414 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
rs1057516680 | 0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv | 2 | |||
rs1057516747 | 0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 | 2 | ||
rs1057516880 | 0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins | 2 | |||
rs1060499703 | 0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv | 2 | |||
rs1167223941 | 0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv | 2 | |||
rs1212702104 | 0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv | 2 | |||
rs12568913 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
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 | |||
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 | |||
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 | |
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 |