Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1535462 | 1.000 | 0.040 | 10 | 101214115 | TF binding site variant | A/C;G | snv | 1 | |||
rs3950032 | 1.000 | 0.040 | 10 | 101214352 | TF binding site variant | A/C;G;T | snv | 1 | |||
rs76319884 | 1.000 | 0.040 | 10 | 101216249 | intergenic variant | C/G | snv | 8.8E-02 | 1 | ||
rs200590764 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | -/T | delins | 6.6E-03 | 1 | ||
rs7914775 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | C/T | snv | 8.8E-02 | 1 | ||
rs11190870 | 0.827 | 0.200 | 10 | 101219450 | intergenic variant | T/A;C | snv | 4 | |||
rs11598177 | 1.000 | 0.040 | 10 | 101220399 | regulatory region variant | T/C | snv | 0.47 | 1 | ||
rs1322332 | 1.000 | 0.040 | 10 | 101222891 | downstream gene variant | T/C | snv | 0.50 | 1 | ||
rs1407409 | 1.000 | 0.040 | 10 | 101225650 | upstream gene variant | T/C | snv | 0.22 | 1 | ||
rs1322331 | 0.925 | 0.200 | 10 | 101226832 | 3 prime UTR variant | A/C | snv | 0.50 | 1 | ||
rs1322330 | 1.000 | 0.040 | 10 | 101231902 | intron variant | A/G | snv | 0.22 | 1 | ||
rs594791 | 1.000 | 0.040 | 10 | 101236039 | intron variant | T/C;G | snv | 1 | |||
rs678741 | 0.851 | 0.200 | 10 | 101237824 | intron variant | G/A | snv | 0.51 | 3 | ||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs1567552713 | 0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv | 7 | |||
rs1350968647 | 0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 | 5 | ||
rs1567558314 | 0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins | 7 | |||
rs1567564042 | 0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv | 6 | |||
rs557849165 | 0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 | 9 | ||
rs267607144 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 17 | |||
rs397507542 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 8 | |||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs1878169 | 1.000 | 0.040 | 3 | 123429 | intron variant | A/T | snv | 0.32 | 1 | ||
rs9819101 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 1 | ||
rs121918274 | 0.882 | 0.200 | 11 | 124870650 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1 |