Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs777843533 | 0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins | 3 | |||
rs1560092224 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 5 | |||
rs1555582065 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 13 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1569110700 | 0.925 | 0.080 | 22 | 42179633 | missense variant | G/A | snv | 5 | |||
rs869312678 | 0.925 | 0.160 | 22 | 42209920 | frameshift variant | CA/- | delins | 3 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs1553510301 | 0.925 | 0.040 | 2 | 161417794 | missense variant | T/C | snv | 3 | |||
rs1553510171 | 1.000 | 0.040 | 2 | 161416881 | frameshift variant | C/- | del | 2 | |||
rs1553510217 | 1.000 | 0.040 | 2 | 161417083 | missense variant | A/T | snv | 2 | |||
rs1553510280 | 1.000 | 0.040 | 2 | 161417690 | frameshift variant | GTTTTAA/- | delins | 2 | |||
rs1553510313 | 1.000 | 0.040 | 2 | 161417827 | stop gained | C/T | snv | 2 | |||
rs1553510385 | 1.000 | 0.040 | 2 | 161418249 | stop gained | G/A | snv | 2 | |||
rs1553510680 | 1.000 | 0.040 | 2 | 161420241 | frameshift variant | -/G | delins | 2 | |||
rs1553511175 | 1.000 | 0.040 | 2 | 161423547 | frameshift variant | ACG/CA | delins | 2 | |||
rs1553511216 | 1.000 | 0.040 | 2 | 161423815 | frameshift variant | -/GCCCGCAGTC | delins | 2 | |||
rs1553511226 | 1.000 | 0.040 | 2 | 161423830 | frameshift variant | GC/- | delins | 2 | |||
rs762713626 | 1.000 | 0.040 | 2 | 161420222 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1567368243 | 0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins | 9 | |||
rs529855742 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 15 | |
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs879253767 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 6 | |||
rs752134549 | 0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 6 | |
rs1554297905 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 6 | |||
rs1085308047 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 6 |