Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs864309505 | 0.807 | 0.200 | 11 | 6615220 | missense variant | T/G | snv | 10 | |||
rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
rs1564855725 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 5 | |||
rs553522118 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 5 | |||
rs878855331 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 5 | |||
rs1057516945 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 2 | |||
rs113019349 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 2 | |||
rs121908199 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 2 | |||
rs1554902052 | 0.925 | 0.120 | 11 | 6617430 | splice acceptor variant | T/C | snv | 2 | |||
rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
rs786204753 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 2 | |||
rs1057516319 | 1.000 | 0.120 | 11 | 6615449 | stop gained | G/T | snv | 1 | |||
rs1057516366 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 1 | |||
rs1057516511 | 1.000 | 0.120 | 11 | 6614687 | splice acceptor variant | C/T | snv | 7.0E-06 | 1 | ||
rs1057516579 | 1.000 | 0.120 | 11 | 6614576 | frameshift variant | -/G | delins | 1 | |||
rs1057516667 | 1.000 | 0.120 | 11 | 6617777 | splice acceptor variant | C/G;T | snv | 1 | |||
rs1057517313 | 1.000 | 0.120 | 11 | 6616728 | frameshift variant | G/- | delins | 1 | |||
rs119455953 | 1.000 | 0.120 | 11 | 6616057 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs121908196 | 1.000 | 0.120 | 11 | 6616687 | missense variant | A/T | snv | 1 | |||
rs121908198 | 1.000 | 0.120 | 11 | 6615554 | missense variant | A/T | snv | 1 | |||
rs121908201 | 1.000 | 0.120 | 11 | 6615235 | missense variant | G/T | snv | 1 | |||
rs121908205 | 1.000 | 0.120 | 11 | 6617057 | missense variant | G/A | snv | 1 | |||
rs121908206 | 1.000 | 0.120 | 11 | 6616333 | missense variant | T/G | snv | 1 |