Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs4362 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 9 | |
rs867394500 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 4 | |||
rs538166970 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs3759126 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 3 | ||
rs121908144 | 0.882 | 0.240 | 1 | 54999221 | missense variant | T/C | snv | 2.0E-05 | 3 | ||
rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
rs4281481 | 0.882 | 0.080 | 11 | 22859013 | intron variant | C/G | snv | 0.36 | 3 | ||
rs151340626 | 0.827 | 0.200 | X | 50085987 | missense variant | C/T | snv | 5 | |||
rs151340624 | 0.851 | 0.120 | X | 50090846 | stop gained | C/T | snv | 4 | |||
rs118203979 | 0.925 | 0.080 | 1 | 42740005 | missense variant | C/T | snv | 9.0E-05 | 2.8E-05 | 2 | |
rs188942711 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs104886303 | 0.851 | 0.200 | X | 108695409 | missense variant | T/G | snv | 4 | |||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs11739136 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 10 | |
rs2285450 | 1.000 | 0.080 | 19 | 35851365 | synonymous variant | G/A | snv | 2.2E-02 | 4.1E-02 | 1 | |
rs3024912 | 0.925 | 0.120 | 2 | 191028361 | intron variant | A/C | snv | 0.29 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4821480 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 9 | ||
rs3752462 | 0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 | 7 | |
rs2032487 | 0.882 | 0.080 | 22 | 36299382 | intron variant | C/T | snv | 0.78 | 3 | ||
rs4821481 | 1.000 | 0.080 | 22 | 36299896 | intron variant | C/T | snv | 0.78 | 1 | ||
rs437168 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 2 |