Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1085308050 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 7 | |||
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs730882197 | 0.925 | 0.040 | 12 | 4525342 | frameshift variant | -/GTTT | delins | 4 | |||
rs1555013332 | 0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins | 4 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs8321 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 16 | |
rs11568817 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 8 | ||
rs11152369 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 5 | ||
rs10956838 | 1.000 | 0.040 | 8 | 92392214 | intergenic variant | A/C | snv | 0.28 | 2 | ||
rs1049522 | 1.000 | 0.040 | 5 | 36686784 | 3 prime UTR variant | A/C | snv | 0.35 | 1 | ||
rs37020 | 1.000 | 0.040 | 5 | 1418259 | intron variant | A/C | snv | 0.53 | 1 | ||
rs403636 | 1.000 | 0.040 | 5 | 1438239 | intron variant | A/C | snv | 0.81 | 1 | ||
rs1307997067 | 0.851 | 0.320 | 17 | 3664199 | missense variant | A/C;G | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs12443954 | 0.851 | 0.040 | 16 | 89675088 | intron variant | A/C;G | snv | 5 | |||
rs140630794 | 0.925 | 0.040 | 21 | 36397429 | missense variant | A/C;G | snv | 1.3E-05; 4.2E-06 | 3 | ||
rs7164335 | 1.000 | 0.040 | 15 | 68422693 | intron variant | A/C;G | snv | 1 | |||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs12042052 | 1.000 | 0.040 | 1 | 232799973 | upstream gene variant | A/C;G;T | snv | 1 | |||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 |