Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2298212 | 0.925 | 0.200 | 1 | 1211917 | intron variant | G/A | snv | 8.3E-02 | 8.0E-02 | 2 | |
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs3087459 | 0.925 | 0.160 | 6 | 12289406 | upstream gene variant | A/C | snv | 0.20 | 2 | ||
rs5369 | 1.000 | 0.120 | 6 | 12294025 | synonymous variant | A/G | snv | 0.90 | 0.88 | 1 | |
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 | |||
rs2235312 | 0.882 | 0.160 | X | 129653118 | intron variant | A/G | snv | 0.31 | 3 | ||
rs3761581 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 5 | ||
rs676457 | 1.000 | 0.120 | 9 | 133270797 | intron variant | T/A | snv | 3 | |||
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs3092952 | 0.925 | 0.160 | X | 136644791 | upstream gene variant | A/G | snv | 0.29 | 3 | ||
rs3092920 | 0.925 | 0.160 | X | 136661832 | downstream gene variant | G/T | snv | 0.23 | 2 | ||
rs9818870 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 9 | |||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs6922269 | 0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 | 7 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2046934 | 0.882 | 0.200 | 3 | 151339854 | intron variant | G/A;C | snv | 3 | |||
rs2768759 | 0.851 | 0.200 | 1 | 156882671 | downstream gene variant | A/C;G | snv | 4 | |||
rs12566888 | 0.807 | 0.280 | 1 | 156899255 | intron variant | G/T | snv | 0.26 | 7 | ||
rs3737224 | 0.882 | 0.160 | 1 | 156909788 | synonymous variant | C/T | snv | 0.14 | 0.13 | 3 | |
rs41273215 | 0.882 | 0.160 | 1 | 156912167 | intron variant | C/T | snv | 0.13 | 3 | ||
rs822442 | 0.851 | 0.160 | 1 | 156913423 | missense variant | C/A;T | snv | 0.14; 4.0E-06 | 4 |