Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2276466 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 15 | |||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs2689154 | 0.882 | 0.080 | 1 | 238745053 | intergenic variant | C/A;G;T | snv | 3 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs2839698 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 25 | ||
rs2854746 | 0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 | 14 | ||
rs3130 | 0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv | 6 | |||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs34743033 | 0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins | 8 | |||
rs373129709 | 0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 | 7 | ||
rs376040996 | 0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 | 7 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs3809865 | 0.790 | 0.240 | 17 | 47311220 | 3 prime UTR variant | T/A;G | snv | 11 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs5277 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 9 | ||
rs56250509 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 10 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 |