Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
rs4360494 | 0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 | 12 | ||
rs12144319 | 0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 | 10 | ||
rs17011141 | 0.776 | 0.080 | 1 | 221939292 | intron variant | A/G | snv | 0.21 | 10 | ||
rs6678517 | 0.776 | 0.080 | 1 | 183033504 | intron variant | A/G;T | snv | 10 | |||
rs1346600942 | 1.000 | 0.080 | 1 | 225838845 | missense variant | C/T | snv | 1 | |||
rs2070959 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 16 | |
rs7775 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 14 | ||
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 11 | |
rs11903757 | 0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 | 11 | ||
rs11884596 | 0.776 | 0.080 | 2 | 198747683 | intron variant | T/C | snv | 0.32 | 10 | ||
rs3731861 | 0.776 | 0.080 | 2 | 218326533 | intron variant | T/C | snv | 0.32 | 10 | ||
rs448513 | 0.776 | 0.080 | 2 | 159108040 | intron variant | T/C | snv | 0.41 | 10 |