Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553604559 | 1.000 | 0.160 | 3 | 14148695 | frameshift variant | G/- | delins | 1 | |||
rs1553604570 | 1.000 | 0.160 | 3 | 14148733 | splice acceptor variant | T/C | snv | 1 | |||
rs1553604620 | 1.000 | 0.160 | 3 | 14148949 | splice acceptor variant | C/T | snv | 1 | |||
rs1553605023 | 1.000 | 0.160 | 3 | 14152349 | stop gained | C/A | snv | 1 | |||
rs1553605497 | 1.000 | 0.160 | 3 | 14156434 | frameshift variant | G/- | delins | 1 | |||
rs1553605655 | 1.000 | 0.160 | 3 | 14158197 | frameshift variant | G/- | delins | 1 | |||
rs1553605761 | 1.000 | 0.160 | 3 | 14158461 | frameshift variant | -/T | delins | 1 | |||
rs1553605795 | 1.000 | 0.160 | 3 | 14158554 | frameshift variant | AG/- | delins | 1 | |||
rs1553605805 | 1.000 | 0.160 | 3 | 14158589 | frameshift variant | -/A | ins | 1 | |||
rs1553605813 | 1.000 | 0.160 | 3 | 14158590 | frameshift variant | TTTAT/- | del | 1 | |||
rs1553605871 | 1.000 | 0.160 | 3 | 14158739 | frameshift variant | -/G | delins | 1 | |||
rs1553605894 | 1.000 | 0.160 | 3 | 14158894 | splice acceptor variant | T/C | snv | 1 | |||
rs1553605973 | 1.000 | 0.160 | 3 | 14159815 | frameshift variant | -/A | delins | 1 | |||
rs1553606979 | 1.000 | 0.160 | 3 | 14167171 | frameshift variant | GT/- | delins | 1 | |||
rs1553607144 | 1.000 | 0.160 | 3 | 14168277 | frameshift variant | -/T | delins | 1 | |||
rs1553607419 | 1.000 | 0.160 | 3 | 14170482 | frameshift variant | T/- | delins | 1 | |||
rs1553607744 | 1.000 | 0.160 | 3 | 14172866 | splice donor variant | C/T | snv | 1 | |||
rs1553607773 | 1.000 | 0.160 | 3 | 14173019 | frameshift variant | G/- | delins | 1 | |||
rs1553608616 | 1.000 | 0.160 | 3 | 14178464 | splice donor variant | A/C | snv | 1 | |||
rs1553608637 | 1.000 | 0.160 | 3 | 14178514 | stop gained | G/A | snv | 1 | |||
rs1559374923 | 1.000 | 0.160 | 3 | 14158010 | splice donor variant | C/G | snv | 1 | |||
rs201940931 | 1.000 | 0.160 | 3 | 14165587 | splice acceptor variant | T/C;G | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs373519125 | 1.000 | 0.160 | 3 | 14164836 | stop gained | G/A;T | snv | 1.6E-05; 1.6E-05 | 1 | ||
rs745679643 | 1.000 | 0.160 | 3 | 14165549 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs746250060 | 1.000 | 0.160 | 3 | 14158319 | stop gained | T/A;C | snv | 1 |