Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63751327 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 4 | |||
rs267608128 | 0.925 | 0.160 | 2 | 47806496 | frameshift variant | -/ATTA | delins | 4 | |||
rs876661222 | 0.925 | 0.160 | 2 | 47806309 | stop gained | -/ATTA | delins | 4 | |||
rs1553333753 | 0.925 | 0.160 | 2 | 47806643 | splice donor variant | -/ATTT | delins | 4 | |||
rs1553408245 | 1.000 | 0.160 | 2 | 47783357 | frameshift variant | -/CTTCCCCA | delins | 1 | |||
rs786201050 | 0.925 | 0.160 | 2 | 47800211 | frameshift variant | -/G | delins | 7.0E-06 | 4 | ||
rs267608121 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 4 | |||
rs63750955 | 0.925 | 0.160 | 2 | 47798633 | frameshift variant | -/T | delins | 1.4E-05 | 4 | ||
rs1057517551 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 3 | |||
rs587779241 | 0.925 | 0.160 | 2 | 47800517 | frameshift variant | -/T | delins | 3 | |||
rs786201084 | 1.000 | 0.160 | 2 | 47806300 | frameshift variant | -/T | ins | 3 | |||
rs267608041 | 1.000 | 0.160 | 2 | 47798718 | frameshift variant | A/-;AA | delins | 7.0E-06 | 3 | ||
rs1553331659 | 1.000 | 0.160 | 2 | 47803615 | frameshift variant | A/-;AA | delins | 2 | |||
rs267608098 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 4 | |||
rs730881827 | 1.000 | 0.160 | 2 | 47800815 | frameshift variant | AA/- | del | 3 | |||
rs267608064 | 0.925 | 0.160 | 2 | 47799614 | frameshift variant | AAAA/-;AA | delins | 4 | |||
rs63750735 | 0.925 | 0.160 | 2 | 47799789 | frameshift variant | AAAG/- | del | 3 | |||
rs63749874 | 0.925 | 0.160 | 2 | 47799616 | frameshift variant | AAGA/- | delins | 4 | |||
rs1553414239 | 0.925 | 0.160 | 2 | 47800856 | frameshift variant | AG/- | del | 2 | |||
rs193922343 | 0.925 | 0.160 | 2 | 47806254 | frameshift variant | AGAA/-;AGAAAAGAA;AGAAAGAA | delins | 4 | |||
rs267608077 | 0.925 | 0.160 | 2 | 47799112 | frameshift variant | AGAGA/- | delins | 4 | |||
rs878853702 | 1.000 | 0.160 | 2 | 47799332 | frameshift variant | AT/- | delins | 3 | |||
rs63751234 | 1.000 | 0.160 | 2 | 47799585 | frameshift variant | C/- | del | 1 | |||
rs267608078 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 5 | |||
rs730881816 | 0.925 | 0.160 | 2 | 47799788 | stop gained | C/A;G | snv | 4 |