Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs4909945 | 11 | 10652192 | missense variant | T/A;C | snv | 0.76 | 2 | ||||
rs6606710 | 12 | 109411098 | intron variant | T/C | snv | 0.50 | 1 | ||||
rs7300001 | 12 | 110143926 | intron variant | A/G;T | snv | 1 | |||||
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs17220352 | 9 | 116485780 | intron variant | A/G | snv | 0.21 | 1 | ||||
rs9490318 | 6 | 121539061 | downstream gene variant | C/T | snv | 0.16 | 1 | ||||
rs78438709 | 10 | 122441555 | 3 prime UTR variant | A/G | snv | 5.2E-02 | 1 | ||||
rs2895526 | 10 | 12684062 | intron variant | T/A;G | snv | 1 | |||||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs2530223 | 1.000 | 0.080 | 5 | 141634927 | synonymous variant | T/C | snv | 0.62 | 0.68 | 2 | |
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs867770797 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 8 | |||
rs12740679 | 1 | 150289855 | upstream gene variant | C/G | snv | 0.25 | 1 | ||||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs34097149 | 3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 | 1 | ||||
rs1050316 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 3 | ||||
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1518111 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 9 | ||
rs1518110 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 5 | |||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 |