Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557047827 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 2 | |||
rs1557380616 | 0.925 | 0.120 | X | 32485053 | stop gained | A/T | snv | 2 | |||
rs1557396600 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 2 | |||
rs1569526579 | 0.925 | 0.160 | X | 32809612 | splice acceptor variant | C/G | snv | 2 | |||
rs1569528101 | 0.925 | 0.160 | X | 32816514 | inframe deletion | GTG/- | delins | 2 | |||
rs1569559849 | 0.925 | 0.160 | X | 32364712 | splice acceptor variant | T/C | snv | 2 | |||
rs182575709 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 2 | ||
rs201366610 | 0.925 | 0.160 | X | 32501833 | stop gained | G/A;C | snv | 5.9E-06 | 2 | ||
rs398123923 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 2 | |||
rs398123973 | 0.925 | 0.160 | X | 32365049 | stop gained | G/A;T | snv | 5.5E-06 | 2 | ||
rs398124040 | 0.925 | 0.160 | X | 31875300 | frameshift variant | T/-;TT | delins | 2 | |||
rs398124074 | 0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv | 2 | |||
rs398124105 | 0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins | 2 | |||
rs779739455 | 0.925 | 0.120 | X | 31968451 | splice acceptor variant | C/A;G | snv | 5.5E-06 | 2 | ||
rs863224986 | 0.925 | 0.160 | X | 32491492 | stop gained | G/A;T | snv | 2 | |||
rs863224999 | 0.925 | 0.160 | X | 32380626 | stop gained | G/A | snv | 2 | |||
rs863225007 | 0.925 | 0.160 | X | 31968341 | frameshift variant | -/T | delins | 2 | |||
rs886042840 | 0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins | 2 | |||
rs886043375 | 0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins | 2 | |||
rs886043989 | 0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv | 2 | |||
rs1010666282 | 1.000 | 0.120 | X | 32411754 | stop gained | G/A;T | snv | 1 | |||
rs104894789 | 1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv | 1 | |||
rs1055371114 | 1.000 | 0.120 | X | 32484946 | stop gained | G/A;T | snv | 2.2E-05 | 1 | ||
rs1057518207 | 1.000 | 0.120 | X | 32545158 | splice donor variant | C/T | snv | 1 | |||
rs1057518692 | 1.000 | 0.120 | X | 32343221 | frameshift variant | C/- | delins | 1 |