Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11072518 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 3 | |||||
rs1711972 | 0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 | 3 | ||
rs2132572 | 1.000 | 7 | 45921946 | upstream gene variant | T/C | snv | 0.79 | 3 | |||
rs2138533 | 1.000 | 0.120 | 2 | 188972486 | upstream gene variant | T/A;C | snv | 3 | |||
rs11887092 | 1.000 | 0.120 | 2 | 188972572 | upstream gene variant | A/G | snv | 7.8E-02 | 2 | ||
rs2295786 | 1.000 | 0.080 | 10 | 103856724 | upstream gene variant | A/G;T | snv | 2 | |||
rs3809263 | 1.000 | 0.080 | 12 | 664290 | upstream gene variant | C/T | snv | 0.33 | 2 | ||
rs4795895 | 1.000 | 0.120 | 17 | 34284427 | upstream gene variant | A/G | snv | 0.86 | 2 | ||
rs705381 | 1.000 | 0.080 | 7 | 95324637 | upstream gene variant | T/C | snv | 0.72 | 2 | ||
rs17329620 | 12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 | 1 | ||||
rs1906599 | 4 | 110791530 | upstream gene variant | T/C | snv | 0.67 | 1 | ||||
rs623580 | 11 | 18042430 | upstream gene variant | A/T | snv | 0.65 | 1 | ||||
rs75188332 | 8 | 132863908 | upstream gene variant | T/G | snv | 6.6E-02 | 1 | ||||
rs7963803 | 12 | 71937538 | upstream gene variant | C/A;G | snv | 1 | |||||
rs854571 | 7 | 95325307 | upstream gene variant | T/C | snv | 0.62 | 1 | ||||
rs5065 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 12 | |
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs3774261 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 10 | ||
rs72664207 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs1799913 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 5 | |
rs12221497 | 0.882 | 0.160 | 11 | 47259102 | splice region variant | G/A | snv | 0.11 | 4 | ||
rs2277984 | 0.925 | 0.120 | 19 | 6679500 | splice region variant | C/T | snv | 0.52 | 0.50 | 3 | |
rs1480544 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 1 | ||||
rs6095892 | 20 | 50369334 | TF binding site variant | T/C | snv | 0.20 | 1 | ||||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 |