Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs999885 | 0.925 | 0.120 | 7 | 100103553 | intron variant | G/A | snv | 0.56 | 0.46 | 1 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 2 | |
rs17401966 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 2 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs548234 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 4 | ||
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 3 | ||
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 1 | |
rs72550870 | 0.776 | 0.360 | 1 | 11046609 | missense variant | T/C | snv | 2.1E-02 | 2.2E-02 | 1 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 29 | |
rs1040441824 | 0.882 | 0.200 | 11 | 112233502 | missense variant | A/G | snv | 2.1E-05 | 1 | ||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 7 | ||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 8 | |||
rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 8 | |||
rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 | |||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 1 | |||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 2 | ||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs1554085355 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 5 | |||
rs290481 | 0.827 | 0.200 | 10 | 113164066 | intron variant | C/T | snv | 0.20 | 1 |