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 | ||
rs137852761 | 0.882 | 0.320 | 11 | 94447288 | stop gained | G/A | snv | 6.0E-05 | 7.0E-05 | 4 | |
rs587781442 | 0.882 | 0.200 | 11 | 94435846 | frameshift variant | -/GAAGTGGTAGGAAAAATGTC | delins | 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 | ||
rs137852760 | 0.925 | 0.200 | 11 | 94479726 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs780001540 | 1.000 | 0.200 | 11 | 94459461 | stop gained | G/A | snv | 8.0E-06 | 2 | ||
rs786203931 | 1.000 | 0.200 | 11 | 94471679 | frameshift variant | -/G | delins | 2 | |||
rs137852763 | 0.851 | 0.320 | 11 | 94476318 | missense variant | C/G | snv | 1 | |||
rs878854776 | 1.000 | 0.200 | 11 | 94459583 | splice acceptor variant | T/C | snv | 1 |