Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 | ||
rs587781442 | 0.882 | 0.200 | 11 | 94435846 | frameshift variant | -/GAAGTGGTAGGAAAAATGTC | delins | 7.0E-05 | 4 | ||
rs137852761 | 0.882 | 0.320 | 11 | 94447288 | stop gained | G/A | snv | 6.0E-05 | 7.0E-05 | 4 | |
rs587781384 | 0.925 | 0.200 | 11 | 94456323 | stop gained | C/A;T | snv | 3.2E-05 | 3 | ||
rs759130031 | 0.925 | 0.200 | 11 | 94476288 | splice donor variant | C/T | snv | 2.0E-05 | 3 | ||
rs371077728 | 0.827 | 0.320 | 11 | 94467821 | stop gained | G/A;C;T | snv | 5.2E-05; 4.0E-06; 7.2E-05 | 3 | ||
rs587781822 | 1.000 | 0.200 | 11 | 94435901 | splice acceptor variant | T/C | snv | 4.0E-06 | 2 | ||
rs1295485913 | 1.000 | 0.200 | 11 | 94435900 | splice acceptor variant | C/A | snv | 2 | |||
rs786202801 | 1.000 | 0.200 | 11 | 94429909 | splice donor variant | A/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs774440500 | 1.000 | 0.120 | 11 | 94464115 | frameshift variant | -/T | delins | 4.0E-06; 1.6E-05 | 2 | ||
rs780001540 | 1.000 | 0.200 | 11 | 94459461 | stop gained | G/A | snv | 8.0E-06 | 2 | ||
rs137852759 | 1.000 | 0.200 | 11 | 94437206 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-06 | 2 | ||
rs786203931 | 1.000 | 0.200 | 11 | 94471679 | frameshift variant | -/G | delins | 2 | |||
rs137852760 | 0.925 | 0.200 | 11 | 94479726 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1555018818 | 11 | 94492799 | start lost | C/A | snv | 1 | |||||
rs1555012083 | 11 | 94467894 | splice acceptor variant | C/T | snv | 1 | |||||
rs747832587 | 11 | 94459467 | frameshift variant | T/-;TT | delins | 1 | |||||
rs1264516058 | 11 | 94437234 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||||
rs876659145 | 11 | 94479763 | splice acceptor variant | T/C | snv | 8.2E-06 | 7.0E-06 | 1 | |||
rs776912688 | 11 | 94471613 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||||
rs951805101 | 11 | 94486068 | stop gained | A/C | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs1451215042 | 11 | 94476404 | splice acceptor variant | C/T | snv | 2.1E-05 | 1 | ||||
rs779269083 | 11 | 94486009 | stop gained | C/A;T | snv | 8.0E-06 | 1 | ||||
rs1376550081 | 11 | 94459494 | stop gained | C/A | snv | 7.0E-06 | 1 | ||||
rs1555002387 | 11 | 94437172 | splice donor variant | TTAC/- | delins | 1 |