Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2723183 | 1.000 | 0.040 | 2 | 112917144 | missense variant | A/G | snv | 6.8E-02 | 1.0E-01 | 2 | |
rs7567687 | 0.925 | 0.040 | 2 | 129276753 | upstream gene variant | C/T | snv | 0.43 | 2 | ||
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 | |||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs1126478 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 11 | |
rs1126477 | 0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 | 7 | |
rs6785049 | 0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 | 4 | ||
rs1523128 | 0.882 | 0.080 | 3 | 119781817 | 5 prime UTR variant | A/G | snv | 0.89 | 3 | ||
rs2569991 | 0.925 | 0.040 | 3 | 12881698 | intron variant | C/A | snv | 0.72 | 2 | ||
rs6802315 | 0.925 | 0.040 | 3 | 158796571 | intron variant | T/A | snv | 0.59 | 2 | ||
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs5743611 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 7 | |
rs2227532 | 0.882 | 0.120 | 4 | 73739815 | upstream gene variant | T/C | snv | 2.9E-02 | 3 | ||
rs13145041 | 0.925 | 0.040 | 4 | 189616909 | intergenic variant | A/C;G;T | snv | 2 | |||
rs6815464 | 0.925 | 0.120 | 4 | 1316113 | intron variant | C/G;T | snv | 2 | |||
rs733048 | 0.925 | 0.040 | 4 | 13241173 | intergenic variant | G/A | snv | 0.21 | 2 | ||
rs2569190 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 39 | ||
rs1370967 | 0.925 | 0.040 | 5 | 111203694 | intergenic variant | G/A | snv | 7.8E-02 | 2 | ||
rs6885116 | 0.925 | 0.040 | 5 | 168216540 | intron variant | A/G | snv | 0.14 | 2 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 |