Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691143 | 0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins | 3 | |||
rs137854577 | 0.925 | 0.120 | 5 | 112780901 | stop gained | C/T | snv | 3 | |||
rs376213437 | 0.925 | 0.120 | 5 | 112767256 | stop gained | T/A;C;G | snv | 4.0E-06; 4.0E-05 | 3 | ||
rs387906239 | 0.925 | 0.120 | 5 | 112818969 | frameshift variant | GA/- | del | 3 | |||
rs397514031 | 0.925 | 0.120 | 5 | 112775628 | splice acceptor variant | G/A;C | snv | 3 | |||
rs397515735 | 0.925 | 0.120 | 5 | 112815554 | frameshift variant | CT/- | delins | 3 | |||
rs398123121 | 0.925 | 0.120 | 5 | 112839576 | stop gained | C/T | snv | 3 | |||
rs587779353 | 0.925 | 0.120 | 5 | 112838793 | frameshift variant | TCAA/- | delins | 3 | |||
rs587779780 | 0.925 | 0.120 | 5 | 112819245 | stop gained | C/T | snv | 7.0E-06 | 3 | ||
rs587779783 | 0.925 | 0.120 | 5 | 112838007 | stop gained | C/G;T | snv | 3 | |||
rs587781330 | 0.925 | 0.120 | 5 | 112841528 | frameshift variant | ACAA/- | delins | 3 | |||
rs587781694 | 0.925 | 0.120 | 5 | 112766335 | frameshift variant | ACAA/- | delins | 3 | |||
rs587781809 | 0.925 | 0.120 | 5 | 112766412 | splice donor variant | T/A;C | snv | 3 | |||
rs587782557 | 0.925 | 0.120 | 5 | 112775632 | frameshift variant | AT/- | del | 3 | |||
rs587783029 | 0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv | 3 | |||
rs775126020 | 0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv | 3 | |||
rs864622228 | 0.925 | 0.120 | 5 | 112841416 | frameshift variant | CAGA/- | delins | 3 | |||
rs876658355 | 0.925 | 0.120 | 5 | 112835073 | stop gained | C/A;G;T | snv | 3 | |||
rs876658941 | 0.925 | 0.120 | 5 | 112766410 | stop gained | G/A;C;T | snv | 3 | |||
rs879254090 | 0.925 | 0.120 | 5 | 112827247 | missense variant | G/A;C | snv | 3 | |||
rs1057517559 | 1.000 | 0.120 | 5 | 112815595 | splice donor variant | T/C | snv | 2 | |||
rs1060503261 | 1.000 | 0.120 | 5 | 112801383 | splice region variant | G/A | snv | 2 | |||
rs1060503318 | 1.000 | 0.120 | 5 | 112835165 | missense variant | G/A;T | snv | 2 | |||
rs1060503336 | 1.000 | 0.120 | 5 | 112837690 | stop gained | G/A | snv | 2 | |||
rs1064793020 | 1.000 | 0.120 | 5 | 112767198 | frameshift variant | ATAG/- | delins | 2 |