Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs188839109 | 0.882 | 0.040 | 11 | 2301859 | start lost | C/T | snv | 1.0E-02 | 9.6E-03 | 3 | |
rs1108580 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 9 | |
rs2302045 | 0.851 | 0.040 | 2 | 241081801 | splice region variant | G/A | snv | 7.6E-02 | 1.0E-01 | 4 | |
rs41283526 | 0.925 | 0.040 | 10 | 60145969 | splice region variant | T/C | snv | 7.6E-03 | 8.2E-03 | 2 | |
rs12594483 | 1.000 | 0.040 | 15 | 42729788 | splice region variant | G/A;C | snv | 0.21 | 1 | ||
rs36030485 | 0.925 | 0.040 | 9 | 2411646 | TF binding site variant | C/T | snv | 3.5E-02 | 2 | ||
rs17183814 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 7 | |
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs758921595 | 1.000 | 0.040 | 18 | 13826391 | frameshift variant | -/G | ins | 2.4E-05 | 2.8E-05 | 1 | |
rs1801260 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 28 | ||
rs165599 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 27 | ||
rs3749474 | 0.724 | 0.320 | 4 | 55434518 | 3 prime UTR variant | C/T | snv | 0.33 | 17 | ||
rs6198 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 16 | ||
rs8321 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 16 | |
rs1805502 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 7 | ||
rs7224199 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 7 | ||
rs3803300 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 6 | |||
rs1715 | 0.851 | 0.040 | 19 | 51991525 | 3 prime UTR variant | T/C | snv | 1.4E-05 | 5 | ||
rs1054442 | 0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 | 4 | ||
rs6191 | 0.925 | 0.040 | 5 | 143278591 | 3 prime UTR variant | C/A | snv | 0.48 | 4 | ||
rs1064395 | 0.882 | 0.120 | 19 | 19250926 | 3 prime UTR variant | G/A | snv | 0.24 | 3 | ||
rs12618769 | 0.882 | 0.120 | 2 | 98623468 | 3 prime UTR variant | C/T | snv | 0.18 | 3 | ||
rs74796725 | 0.882 | 0.040 | 12 | 53187599 | 3 prime UTR variant | G/T | snv | 1.2E-02 | 1.3E-02 | 3 | |
rs946903 | 0.882 | 0.040 | 1 | 147625465 | 3 prime UTR variant | T/C | snv | 0.25 | 3 | ||
rs1131339 | 0.925 | 0.080 | 9 | 99865020 | 3 prime UTR variant | A/G | snv | 0.45 | 2 |