Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11571836 | 0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv | 6 | |||
rs7675998 | 0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv | 5 | |||
rs1801272 | 0.807 | 0.240 | 19 | 40848628 | missense variant | A/T | snv | 2.0E-02 | 1.8E-02 | 6 | |
rs2980879 | 0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 | 3 | ||
rs397507851 | 0.925 | 0.120 | 13 | 32340761 | frameshift variant | AAATGTT/- | delins | 3 | |||
rs587776416 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 5 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs11554495 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 19 | |
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs74315364 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 13 | |
rs4988483 | 0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 | 11 | |
rs9582036 | 0.776 | 0.280 | 13 | 28311271 | intron variant | C/A | snv | 0.59 | 8 | ||
rs1235228469 | 0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 | 2 | ||
rs149243735 | 0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 | 2 | ||
rs1630747 | 0.925 | 0.120 | 21 | 34085692 | intron variant | C/A | snv | 0.69 | 2 | ||
rs2255280 | 0.925 | 0.120 | 5 | 39394887 | intron variant | C/A | snv | 0.98 | 2 | ||
rs779731636 | 0.925 | 0.120 | 6 | 159685026 | missense variant | C/A | snv | 8.6E-06 | 2 | ||
rs78303930 | 0.925 | 0.120 | 1 | 156670593 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-03 | 4 | ||
rs1800843 | 0.925 | 0.120 | 11 | 6270835 | synonymous variant | C/A;G | snv | 0.16; 4.0E-06 | 0.19 | 2 | |
rs782128510 | 0.925 | 0.120 | 17 | 410373 | missense variant | C/A;G | snv | 7.6E-05; 8.4E-06 | 2 | ||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 |