Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs114444506 | 1.000 | 0.080 | 11 | 26325284 | intron variant | T/C | snv | 1.7E-02 | 1 | ||
rs2724384 | 1.000 | 0.080 | 1 | 207756858 | intron variant | G/A | snv | 0.80 | 1 | ||
rs273259 | 1.000 | 0.080 | 1 | 78628133 | missense variant | A/G | snv | 0.38 | 0.36 | 1 | |
rs11105468 | 1.000 | 0.080 | 12 | 89935056 | intron variant | T/A | snv | 0.26 | 1 | ||
rs1318653 | 1.000 | 0.080 | 1 | 207841577 | intron variant | T/C | snv | 0.19 | 1 | ||
rs13306038 | 1.000 | 0.080 | 1 | 186671995 | 3 prime UTR variant | A/T | snv | 4.6E-03 | 1 | ||
rs201931599 | 1.000 | 0.080 | 1 | 186671994 | 3 prime UTR variant | T/A | snv | 1.7E-02 | 1 | ||
rs4648306 | 1.000 | 0.080 | 1 | 186671572 | downstream gene variant | C/T | snv | 0.12 | 1 | ||
rs556893466 | 1.000 | 0.080 | 2 | 165991477 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 1 | ||
rs1553553485 | 1.000 | 0.080 | 2 | 166058626 | stop gained | G/C | snv | 1 | |||
rs3769955 | 1.000 | 0.080 | 2 | 165378122 | intron variant | C/T | snv | 0.42 | 1 | ||
rs146572471 | 1.000 | 0.080 | 2 | 27256512 | missense variant | G/A;C | snv | 5.8E-04; 4.0E-06 | 1 | ||
rs1398830127 | 0.925 | 0.080 | 6 | 29610981 | missense variant | C/T | snv | 4.1E-06 | 2 | ||
rs1805057 | 0.925 | 0.080 | 6 | 29613344 | missense variant | C/T | snv | 1.1E-03 | 1.5E-03 | 2 | |
rs210987 | 0.925 | 0.080 | 5 | 162108749 | intron variant | C/T | snv | 0.54 | 2 | ||
rs211014 | 0.925 | 0.080 | 5 | 162149412 | 3 prime UTR variant | C/A | snv | 0.30 | 2 | ||
rs886039529 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 2 | |||
rs763256222 | 0.925 | 0.080 | 2 | 166288466 | missense variant | G/A | snv | 8.1E-06 | 2 | ||
rs7587026 | 0.925 | 0.080 | 2 | 166122240 | intron variant | C/A | snv | 0.26 | 2 | ||
rs16850331 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 2 | ||
rs3943809 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 2 | ||
rs770771659 | 0.925 | 0.080 | 2 | 166286614 | missense variant | C/T | snv | 9.4E-05 | 2.8E-05 | 2 | |
rs1057518853 | 0.882 | 0.120 | X | 20161641 | splice donor variant | -/A | delins | 3 | |||
rs121918631 | 0.882 | 0.080 | 2 | 166056450 | stop gained | A/G;T | snv | 3 | |||
rs121918782 | 0.882 | 0.080 | 2 | 166041277 | missense variant | T/A;C | snv | 1.6E-05 | 3 |