Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315401 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 32 | |||
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs28933385 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 25 | ||
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs74315408 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 16 | |
rs74315407 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 15 | |
rs74315409 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 13 | |
rs767181086 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs1800014 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 11 | |
rs74315403 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 10 | |||
rs11538758 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 8 | |||
rs74315413 | 0.807 | 0.160 | 20 | 4699780 | missense variant | A/G | snv | 8 | |||
rs74315402 | 0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv | 7 | |||
rs74315405 | 0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv | 6 | |||
rs295301 | 0.851 | 0.160 | 3 | 141619799 | downstream gene variant | G/A | snv | 0.38 | 5 | ||
rs372805579 | 0.851 | 0.200 | 17 | 80195302 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 5 | |
rs16990018 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 5 | |
rs74315412 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 5 | |
rs752600356 | 0.851 | 0.280 | 19 | 44908681 | missense variant | G/A;C | snv | 2.3E-05 | 1.4E-05 | 4 | |
rs773268484 | 0.851 | 0.120 | 7 | 30922174 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-06 | 4 | |
rs638405 | 0.851 | 0.160 | 11 | 117293108 | synonymous variant | C/G | snv | 0.49 | 0.46 | 4 | |
rs1178466848 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 4 | ||
rs193922906 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 4 | |||
rs398122370 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 4 | |||
rs1290309353 | 0.882 | 0.120 | 1 | 33096833 | missense variant | A/G | snv | 4.0E-06 | 3 |