Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6672420 | 0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 | 6 | |
rs689466 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 33 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs12615966 | 0.882 | 0.080 | 2 | 104762499 | upstream gene variant | C/T | snv | 0.14 | 3 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 37 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1800734 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 30 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs4135385 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 14 | ||
rs56250509 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 10 | ||
rs746702110 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 38 | |
rs822395 | 0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv | 10 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 |