Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs743572 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 24 | ||
rs4149117 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 15 | ||
rs1004467 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 13 | |
rs7483 | 0.742 | 0.320 | 1 | 109737079 | missense variant | C/T | snv | 4.0E-06; 0.35 | 0.26 | 11 | |
rs700519 | 0.752 | 0.280 | 15 | 51215771 | missense variant | G/A | snv | 7.6E-02 | 8.0E-02 | 11 | |
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 10 | |||
rs1057519864 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 8 | |||
rs12422149 | 0.827 | 0.120 | 11 | 75172532 | missense variant | G/A;T | snv | 0.18 | 7 | ||
rs1047303 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 4 | ||
rs1395 | 0.882 | 0.200 | 2 | 27201768 | missense variant | G/A | snv | 0.62 | 0.55 | 4 | |
rs6162 | 0.925 | 0.080 | 10 | 102837224 | synonymous variant | G/A | snv | 0.42 | 0.40 | 3 | |
rs6163 | 1.000 | 0.080 | 10 | 102837167 | synonymous variant | C/A;T | snv | 0.40; 8.0E-06 | 3 | ||
rs747099645 | 0.882 | 0.120 | 6 | 152061061 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs56350726 | 0.882 | 0.080 | 9 | 84285454 | missense variant | T/A;C | snv | 7.2E-02; 1.2E-05 | 3 | ||
rs2208532 | 0.882 | 0.080 | 2 | 31563919 | intron variant | G/A | snv | 0.59 | 3 | ||
rs676033 | 0.882 | 0.080 | 2 | 31583901 | upstream gene variant | T/C | snv | 0.69 | 3 | ||
rs7602171 | 1.000 | 0.080 | 2 | 169023668 | intron variant | A/G | snv | 0.72 | 1 | ||
rs886054499 | 1.000 | 0.080 | 19 | 45364860 | missense variant | G/A | snv | 1 | |||
rs1799811 | 1.000 | 0.080 | 11 | 67586108 | missense variant | C/T | snv | 1 | |||
rs5472 | 1.000 | 0.080 | 16 | 72054568 | 5 prime UTR variant | A/G | snv | 0.33 | 1 |