Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2660852 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 3 | ||||
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs976306779 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 8 | ||
rs1340026226 | 1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 | 3 | ||
rs1052667 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs1040411 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 3 | ||
rs4946728 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 3 | ||
rs2064863 | 0.925 | 0.120 | 20 | 56387716 | intron variant | T/A;C;G | snv | 4 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs121913366 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 12 | |||
rs16940 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 5 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs1063192 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 24 | |||
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 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs767151455 | 0.925 | 0.080 | 17 | 39708379 | missense variant | C/T | snv | 8.0E-06 | 4 | ||
rs6024836 | 0.851 | 0.160 | 20 | 56369012 | downstream gene variant | G/A | snv | 0.42 | 7 |