Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 | ||
rs708272 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 24 | |
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 22 | |
rs679620 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 17 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs12917707 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 11 | ||
rs11739136 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 10 | |
rs41507953 | 0.790 | 0.280 | 8 | 27500988 | missense variant | A/G | snv | 8.7E-02 | 0.13 | 10 | |
rs6929846 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 10 | ||
rs7069102 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 10 | ||
rs3816527 | 0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 | 9 | |
rs4362 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 9 | |
rs2296545 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 8 | ||
rs4293393 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 8 | ||
rs7195830 | 0.851 | 0.080 | 16 | 88643304 | 3 prime UTR variant | A/G | snv | 0.62 | 0.69 | 6 | |
rs2569512 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 5 | ||
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs76974938 | 1.000 | 0.080 | 21 | 32609946 | missense variant | C/T | snv | 1.3E-04 | 5.5E-04 | 3 |