Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
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 | |||
rs57045855 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 6 | |||
rs267607499 | 0.851 | 0.160 | 2 | 219418809 | missense variant | A/G;T | snv | 4 | |||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs2230345 | 0.807 | 0.160 | 10 | 119326585 | missense variant | A/T | snv | 3.8E-02 | 9.0E-02 | 6 | |
rs1028728 | 0.925 | 0.040 | 13 | 37599679 | upstream gene variant | A/T | snv | 0.20 | 3 | ||
rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs397507549 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 13 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs767312316 | 1.000 | 0.040 | 17 | 82375046 | stop gained | C/A;G;T | snv | 6.6E-05; 1.7E-05; 1.7E-05 | 1 | ||
rs2549513 | 0.851 | 0.080 | 16 | 79516830 | downstream gene variant | C/A;T | snv | 4 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs8179090 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 12 | ||
rs10501920 | 0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 | 3 | ||
rs1303946678 | 0.925 | 0.040 | 22 | 42126851 | missense variant | C/G | snv | 3 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs2306235 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 6 | |
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 6 |