Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs146400394 | 0.925 | 0.080 | 19 | 35842486 | missense variant | C/T | snv | 6.8E-05 | 4.9E-05 | 2 | |
rs121908525 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 7 | |
rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 | |
rs373863828 | 0.851 | 0.160 | 5 | 173108771 | missense variant | G/A | snv | 4.0E-05 | 8.4E-05 | 6 | |
rs121917864 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 31 | |
rs138924661 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 9 | |
rs121913059 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 16 | |
rs143810759 | 0.851 | 0.280 | 13 | 108210371 | missense variant | C/T | snv | 1.6E-04 | 2.1E-04 | 6 | |
rs148812376 | 0.882 | 0.120 | 16 | 2099955 | missense variant | G/A | snv | 1.7E-04 | 3.2E-04 | 3 | |
rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
rs115489112 | 0.925 | 0.080 | 19 | 35830918 | missense variant | G/A | snv | 4.3E-04 | 1.6E-03 | 2 | |
rs4253373 | 0.925 | 0.080 | 4 | 186250250 | missense variant | C/A | snv | 6.7E-04 | 2.5E-03 | 2 | |
rs35238405 | 0.882 | 0.080 | 19 | 35849565 | missense variant | T/C | snv | 8.0E-04 | 2.6E-03 | 3 | |
rs77113398 | 0.925 | 0.080 | 13 | 106451558 | intergenic variant | G/A | snv | 6.0E-03 | 2 | ||
rs183962941 | 0.925 | 0.080 | 16 | 20343125 | intron variant | G/A | snv | 1.1E-02 | 2 | ||
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs75444904 | 0.851 | 0.160 | 16 | 72061751 | intron variant | A/C | snv | 2.4E-02 | 4 | ||
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs2648862 | 0.882 | 0.120 | 8 | 128049539 | non coding transcript exon variant | C/A | snv | 2.9E-02 | 4 | ||
rs5355 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 14 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs17709344 | 0.925 | 0.080 | 15 | 93608310 | intron variant | G/A | snv | 4.0E-02 | 2 |