Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727503741 | 1.000 | 0.040 | 10 | 74114349 | stop gained | C/T | snv | 2 | |||
rs397517244 | 10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs397517245 | 10 | 74074773 | frameshift variant | -/A | delins | 1 | |||||
rs727503738 | 10 | 74095654 | splice acceptor variant | A/G | snv | 1 | |||||
rs727504381 | 10 | 74097222 | stop gained | C/T | snv | 1 | |||||
rs779488376 | 10 | 74095825 | frameshift variant | A/- | del | 4.0E-05 | 7.0E-06 | 1 | |||
rs781036800 | 10 | 74111991 | frameshift variant | CT/- | del | 1.3E-04 | 1 | ||||
rs876657674 | 10 | 74074789 | frameshift variant | -/G | delins | 1 | |||||
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
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 | |||
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 | |||
rs368200299 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 2 | ||||
rs727503602 | 1.000 | 0.040 | 2 | 178604049 | stop gained | C/T | snv | 2 |