Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs2066714 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 13 | |
rs17477177 | 1.000 | 0.080 | 7 | 106771412 | upstream gene variant | T/C | snv | 0.17 | 4 | ||
rs2228315 | 0.807 | 0.120 | 12 | 108624122 | missense variant | C/T | snv | 0.11 | 0.14 | 7 | |
rs536289169 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 13 | ||
rs200495339 | 1.000 | 0.080 | 19 | 11078623 | intron variant | G/- | delins | 0.12 | 1 | ||
rs121908029 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 13 | ||
rs774439908 | 0.827 | 0.160 | 19 | 11113348 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs879254850 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 9 | ||
rs11066001 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 15 | ||
rs2075291 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 15 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12998782 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 3 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs17611 | 0.732 | 0.480 | 9 | 121006922 | missense variant | C/T | snv | 0.47 | 0.36 | 14 | |
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs2026458 | 0.882 | 0.080 | 6 | 12825642 | intron variant | C/T | snv | 0.34 | 6 | ||
rs2876300 | 1.000 | 0.080 | 6 | 12893871 | intron variant | A/C;G | snv | 1 | |||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs4897549 | 1.000 | 0.080 | 6 | 131898350 | upstream gene variant | C/T | snv | 0.30 | 1 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 |