Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
rs373040154 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 3 | ||
rs727503565 | 0.925 | 0.160 | 2 | 178574498 | frameshift variant | T/- | delins | 3 | |||
rs727504531 | 0.925 | 0.160 | 2 | 178573463 | frameshift variant | A/- | del | 3 | |||
rs727504550 | 0.925 | 0.160 | 2 | 178539537 | stop gained | C/T | snv | 3 | |||
rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
rs794729265 | 0.925 | 0.160 | 2 | 178612355 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
rs869025545 | 0.925 | 0.160 | 2 | 178566448 | stop gained | G/A | snv | 3 | |||
rs869312070 | 0.925 | 0.160 | 2 | 178613938 | splice acceptor variant | C/T | snv | 4.1E-06 | 3 | ||
rs876657666 | 0.925 | 0.160 | 2 | 178588815 | frameshift variant | -/G | delins | 3 | |||
rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
rs1559415567 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 3 | |||
rs397517643 | 0.925 | 0.160 | 2 | 178592914 | frameshift variant | C/- | del | 3 | |||
rs397517696 | 0.925 | 0.160 | 2 | 178572287 | frameshift variant | T/- | delins | 3 | |||
rs397517776 | 0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 | 3 | ||
rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 |