Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1429181351 | 0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 | 4 | ||
rs1554698878 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 4 | ||||
rs1555473499 | 0.925 | 0.120 | 16 | 3738605 | missense variant | A/G | snv | 4 | |||
rs1556886034 | 0.925 | 0.080 | X | 53382594 | missense variant | C/T | snv | 4 | |||
rs387907306 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 4 | |||
rs587777357 | 0.925 | 6 | 30724263 | missense variant | G/A | snv | 4 | ||||
rs587777695 | 0.925 | 0.120 | 5 | 61544156 | missense variant | C/T | snv | 4 | |||
rs587783685 | 0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv | 5 | |||
rs777218310 | 0.925 | 10 | 133369907 | frameshift variant | TA/- | delins | 1.6E-05 | 1.3E-04 | 4 | ||
rs782297546 | 0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins | 5 | |||
rs797044854 | 0.925 | 10 | 252459 | missense variant | C/A;T | snv | 4 | ||||
rs797044884 | 0.925 | 17 | 59677123 | frameshift variant | -/GA | delins | 4 | ||||
rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
rs80358312 | 0.925 | 0.080 | 11 | 68403607 | missense variant | G/A | snv | 7.0E-06 | 4 | ||
rs864321692 | 0.925 | 10 | 28583498 | stop gained | C/A | snv | 4 | ||||
rs869025340 | 0.925 | 0.160 | 7 | 140777032 | missense variant | A/C;G;T | snv | 5 | |||
rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
rs1462161137 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 3 | |||
rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
rs150940923 | 1.000 | 0.240 | 16 | 3027170 | missense variant | G/C | snv | 1.8E-04 | 2.0E-04 | 3 | |
rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 |