Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1178625972 | 1.000 | 0.080 | 22 | 39966117 | missense variant | C/G | snv | 2.4E-05 | 1.4E-05 | 1 | |
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs1957757 | 1.000 | 0.080 | 14 | 61730230 | intron variant | T/C | snv | 0.74 | 1 | ||
rs11549467 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 30 | |
rs4966014 | 0.882 | 0.200 | 15 | 98704789 | intron variant | C/G;T | snv | 3 | |||
rs756529 | 1.000 | 0.080 | 20 | 49394471 | intron variant | G/A | snv | 0.44 | 1 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs2296545 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 8 | ||
rs142000963 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 8 | ||
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 7 | ||
rs4129218 | 1.000 | 0.080 | 12 | 65564881 | intron variant | G/A | snv | 0.70 | 1 | ||
rs121908596 | 0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv | 7 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17168525 | 1.000 | 0.080 | 7 | 135928514 | 3 prime UTR variant | G/A | snv | 1.4E-02 | 1 | ||
rs397516005 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 5 | |
rs387907267 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 4 | |
rs397516037 | 0.851 | 0.120 | 11 | 47332189 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs201278114 | 0.925 | 0.120 | 11 | 47352635 | missense variant | C/A;G | snv | 4.3E-06; 3.0E-04 | 3 | ||
rs1060501439 | 0.925 | 0.080 | 14 | 23424938 | missense variant | T/A | snv | 4 | |||
rs1436109 | 1.000 | 0.080 | 11 | 113120896 | intron variant | G/T | snv | 8.5E-02 | 3 | ||
rs768079285 | 1.000 | 0.080 | 10 | 20840824 | frameshift variant | T/- | delins | 8.0E-06 | 2 | ||
rs2292462 | 1.000 | 0.080 | 15 | 84657523 | intron variant | G/C;T | snv | 2 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 |