Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908196 | 1.000 | 0.120 | 11 | 6616687 | missense variant | A/T | snv | 1 | |||
rs121908197 | 1.000 | 0.120 | 11 | 6616363 | missense variant | C/T | snv | 7.6E-05 | 8.4E-05 | 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 | |||
rs121908203 | 1.000 | 0.120 | 11 | 6615179 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs121908204 | 1.000 | 0.120 | 11 | 6617626 | missense variant | C/A;T | snv | 1.2E-05 | 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 | |||
rs121908207 | 1.000 | 0.120 | 11 | 6616718 | missense variant | C/T | snv | 1 | |||
rs121908208 | 1.000 | 0.120 | 11 | 6614973 | missense variant | C/G | snv | 1 | |||
rs121908210 | 1.000 | 0.120 | 11 | 6614608 | missense variant | G/A | snv | 1 | |||
rs28940573 | 1.000 | 0.120 | 11 | 6617046 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs757953998 | 1.000 | 0.120 | 11 | 6616750 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 1 | |
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 | |||
rs1554902028 | 1.000 | 0.120 | 11 | 6617352 | splice donor variant | A/G | snv | 1 | |||
rs779615685 | 1.000 | 0.120 | 11 | 6619383 | splice donor variant | C/G;T | snv | 1 | |||
rs786204553 | 1.000 | 0.120 | 11 | 6614865 | splice donor variant | C/A;G;T | snv | 1 | |||
rs869025274 | 1.000 | 0.120 | 11 | 6617353 | splice donor variant | C/A;G | snv | 1 | |||
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 | |||
rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
rs1057516366 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 1 |