Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs2236225 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 52 | |
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 18 | |
rs1562150844 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 14 | |||
rs27072 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 11 | |||
rs3746544 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 10 | ||
rs1800955 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 8 | |||
rs13212041 | 0.851 | 0.200 | 6 | 77461407 | downstream gene variant | C/T | snv | 0.70 | 6 | ||
rs2284411 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 4 |