Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2030712 | 7 | 139610185 | intron variant | C/A;T | snv | 1 | |||||
rs7456421 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 4 | |
rs45539933 | 0.882 | 0.280 | 4 | 140567914 | missense variant | C/T | snv | 8.7E-02 | 7.7E-02 | 5 | |
rs2404298 | 1.000 | 0.080 | 8 | 1420853 | intron variant | A/G | snv | 0.84 | 2 | ||
rs347685 | 1.000 | 0.080 | 3 | 142088295 | intron variant | C/A | snv | 0.74 | 4 | ||
rs7660268 | 1.000 | 0.080 | 4 | 14348076 | intergenic variant | C/A | snv | 7.4E-02 | 2 | ||
rs12721226 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 1 | |||
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs200340021 | 0.925 | 0.080 | 12 | 14882204 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs762533455 | 5 | 148827300 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs35574015 | 1.000 | 0.080 | 16 | 15052204 | intron variant | T/C | snv | 0.29 | 2 | ||
rs4725366 | 1.000 | 0.080 | 7 | 150824966 | splice region variant | A/G | snv | 0.81 | 2 | ||
rs267734 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 7 | ||
rs370402227 | 0.925 | 0.120 | 7 | 150996443 | missense variant | G/A;C | snv | 1.1E-05 | 4 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs142864856 | 1.000 | 0.080 | 2 | 151100757 | intergenic variant | CA/-;CACA;CACACA;CACACACA | delins | 2 | |||
rs7805747 | 1.000 | 0.080 | 7 | 151710715 | intron variant | G/A | snv | 0.26 | 5 | ||
rs10906850 | 1.000 | 0.080 | 10 | 15183055 | regulatory region variant | T/C | snv | 0.29 | 2 | ||
rs28415528 | 1.000 | 0.080 | 1 | 151907285 | intron variant | G/A | snv | 0.33 | 2 | ||
rs6657658 | 1.000 | 0.080 | 1 | 151967388 | regulatory region variant | T/C | snv | 0.33 | 2 | ||
rs6587640 | 1.000 | 0.080 | 1 | 151982754 | downstream gene variant | C/T | snv | 0.37 | 2 | ||
rs1059703 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 6 | ||
rs4845625 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 9 |