Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17007695 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 4 | ||
rs4748793 | 0.851 | 0.120 | 10 | 22194082 | intergenic variant | A/G | snv | 0.18 | 4 | ||
rs7789635 | 0.882 | 0.120 | 7 | 50405912 | downstream gene variant | T/C | snv | 0.40 | 4 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs979090956 | 0.827 | 0.200 | 7 | 87553822 | missense variant | G/C | snv | 5 | |||
rs200378616 | 0.882 | 0.120 | 7 | 87544938 | missense variant | G/C;T | snv | 4.0E-05; 8.0E-06 | 3 | ||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs1966862 | 0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 | 8 | ||
rs10821936 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 11 | ||
rs7089424 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 10 | ||
rs10994982 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 7 | ||
rs587781823 | 0.851 | 0.280 | 11 | 108284370 | frameshift variant | -/T | delins | 5 | |||
rs1169704167 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 3 | ||
rs3733890 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 16 | |
rs35134728 | 0.882 | 0.120 | 1 | 11787277 | 3 prime UTR variant | -/AGA | delins | 3 | |||
rs3737966 | 0.882 | 0.120 | 1 | 11787702 | 3 prime UTR variant | C/T | snv | 0.55 | 3 | ||
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 | |
rs757874631 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 4 | |||
rs3731249 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 23 | ||
rs3731217 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 10 | |||
rs3731246 | 0.882 | 0.120 | 9 | 21971990 | intron variant | C/G | snv | 0.11 | 3 | ||
rs564398 | 0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 | 18 | |
rs2239633 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 12 | ||
rs12434881 | 0.882 | 0.120 | 14 | 23119433 | 5 prime UTR variant | G/A | snv | 0.36 | 3 | ||
rs200928781 | 0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 | 11 |