Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs1799821 | 0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 | 8 | |
rs1255283120 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs1764391 | 0.790 | 0.160 | 1 | 34795168 | missense variant | C/G;T | snv | 0.30 | 7 | ||
rs12090554 | 0.925 | 0.080 | 1 | 185583216 | intron variant | G/A | snv | 0.15 | 2 | ||
rs12095080 | 1.000 | 0.080 | 1 | 53911057 | 3 prime UTR variant | A/G | snv | 0.12 | 2 | ||
rs6125 | 0.925 | 0.080 | 1 | 169613079 | missense variant | C/T | snv | 5.6E-02 | 5.2E-02 | 2 | |
rs767830104 | 0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 13 | ||
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs199473244 | 0.851 | 0.120 | 3 | 38557251 | missense variant | C/A | snv | 4 | |||
rs200034939 | 0.882 | 0.080 | 3 | 38557248 | missense variant | C/A | snv | 3.2E-05 | 3 | ||
rs1049194905 | 0.925 | 0.080 | 3 | 38604063 | synonymous variant | A/G | snv | 2 | |||
rs1237080661 | 0.925 | 0.080 | 3 | 38604780 | stop gained | A/G;T | snv | 2.8E-05 | 2 | ||
rs184934308 | 0.925 | 0.080 | 3 | 38575342 | synonymous variant | G/A | snv | 4.1E-04 | 9.1E-05 | 2 | |
rs750678689 | 0.925 | 0.080 | 3 | 38566466 | synonymous variant | G/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs121917864 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 31 | |
rs4220 | 0.925 | 0.080 | 4 | 154570607 | missense variant | G/A | snv | 0.17 | 0.15 | 6 |