Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1050606 | 1.000 | 0.080 | 4 | 121696891 | 5 prime UTR variant | A/C | snv | 0.50 | 2 | ||
rs9402349 | 1.000 | 0.080 | 6 | 131863968 | intron variant | A/C | snv | 9.8E-02 | 1 | ||
rs2278239 | 1.000 | 0.080 | 5 | 79737483 | missense variant | A/C;G | snv | 0.14; 2.8E-05 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1801252 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 17 | |
rs2106809 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 8 | ||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs75404003 | 1.000 | 0.080 | 18 | 62361277 | intron variant | C/- | delins | 1 | |||
rs2960321 | 1.000 | 0.080 | 19 | 38557523 | intron variant | C/A | snv | 0.18 | 1 | ||
rs201278114 | 0.925 | 0.120 | 11 | 47352635 | missense variant | C/A;G | snv | 4.3E-06; 3.0E-04 | 3 | ||
rs238234 | 1.000 | 0.080 | 17 | 4980523 | missense variant | C/A;G;T | snv | 5.6E-05; 0.75; 8.1E-06 | 1 | ||
rs142000963 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 8 | ||
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1178625972 | 1.000 | 0.080 | 22 | 39966117 | missense variant | C/G | snv | 2.4E-05 | 1.4E-05 | 1 | |
rs2296545 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 8 | ||
rs4966014 | 0.882 | 0.200 | 15 | 98704789 | intron variant | C/G;T | snv | 3 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 |