Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs1556880354 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 2 | |||
rs1556962271 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 2 | |||
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 | |||
rs182575709 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 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 | ||
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 | |||
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 | |||
rs1057524037 | 1.000 | 0.120 | X | 31206610 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
rs1060502619 | 1.000 | 0.120 | X | 31496944 | splice acceptor variant | CC/TT | mnv | 1 | |||
rs1060502621 | 1.000 | 0.120 | X | 31627681 | stop gained | G/A | snv | 1 | |||
rs1060502623 | 1.000 | 0.120 | X | 32343226 | stop gained | T/A | snv | 1 | |||
rs1060502624 | 1.000 | 0.120 | X | 31261000 | frameshift variant | TTTG/- | delins | 1 | |||
rs1060502625 | 1.000 | 0.120 | X | 31147347 | frameshift variant | C/- | delins | 1 | |||
rs1060502627 | 1.000 | 0.120 | X | 32518024 | stop gained | A/T | snv | 1 | |||
rs1060502630 | 1.000 | 0.120 | X | 31169589 | frameshift variant | -/TT | delins | 1 |