Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs1006737 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 27 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1625579 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 14 | ||
rs11191580 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 13 | ||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs3746544 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 10 | ||
rs11191454 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 9 | ||
rs2535629 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 9 |