Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs165599 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 27 | ||
rs1065852 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 19 | |
rs1457049406 | 0.851 | 0.200 | 22 | 19962555 | missense variant | C/T | snv | 4 | |||
rs1447119000 | 0.925 | 0.120 | 22 | 42130763 | missense variant | G/A | snv | 2 | |||
rs1322425552 | 0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv | 4 | |||
rs4790953 | 0.851 | 0.160 | 17 | 65230912 | downstream gene variant | A/C | snv | 0.17 | 4 | ||
rs1045280 | 0.882 | 0.160 | 17 | 4719343 | synonymous variant | C/T | snv | 0.71 | 0.62 | 3 | |
rs1800566 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 59 | |
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs1182593032 | 0.851 | 0.200 | 16 | 69718516 | missense variant | A/G | snv | 4 | |||
rs762551 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 23 | ||
rs201934979 | 0.882 | 0.160 | 15 | 74749838 | missense variant | C/T | snv | 8.8E-05; 8.0E-06 | 1.3E-04 | 3 | |
rs3730358 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 14 | ||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs76980269 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 10 | |
rs1806201 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 8 | |
rs1322643228 | 0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 | 6 | ||
rs1330075052 | 0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 | 3 | ||
rs2603751 | 0.925 | 0.120 | 12 | 52059498 | 3 prime UTR variant | T/C | snv | 0.25 | 2 | ||
rs2701124 | 0.925 | 0.120 | 12 | 52054373 | synonymous variant | G/A;C | snv | 9.5E-02 | 2 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 |