Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28358887 | 1.000 | 0.080 | MT | 8994 | synonymous variant | G/A | snv | 1 | |||
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs518147 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 7 | |||
rs886040857 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 7 | |||
rs1414334 | 0.851 | 0.160 | X | 114903581 | intron variant | C/G | snv | 5 | |||
rs3813929 | 0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv | 5 | |||
rs762890235 | 0.827 | 0.240 | X | 15578220 | missense variant | G/T | snv | 3.8E-05 | 9.5E-06 | 5 | |
rs3115757 | 0.925 | 0.120 | X | 129648435 | intron variant | C/G | snv | 0.26 | 3 | ||
rs781854947 | 0.925 | 0.120 | X | 114906797 | stop gained | C/G;T | snv | 1.1E-05; 1.6E-05 | 2.9E-05 | 2 | |
rs782618876 | 0.925 | 0.080 | X | 153935333 | missense variant | G/A | snv | 3.4E-05 | 1.9E-05 | 2 | |
rs62589000 | 1.000 | 0.080 | X | 18667653 | intron variant | C/T | snv | 0.21 | 1 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs867593888 | 0.882 | 0.200 | 22 | 36292059 | missense variant | T/C | snv | 11 | |||
rs4823173 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 8 | |
rs9606756 | 0.790 | 0.160 | 22 | 30610873 | missense variant | A/G | snv | 0.12 | 0.14 | 7 | |
rs1800234 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 6 | ||
rs2239785 | 0.827 | 0.240 | 22 | 36265284 | missense variant | G/A | snv | 0.79 | 0.68 | 5 | |
rs2072907 | 0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 | 3 | ||
rs136175 | 0.925 | 0.120 | 22 | 36265520 | missense variant | G/A;C;T | snv | 0.84; 4.0E-06 | 2 | ||
rs201268858 | 0.925 | 0.120 | 22 | 43946273 | missense variant | C/T | snv | 9.5E-05 | 1.0E-04 | 2 | |
rs2071749 | 0.925 | 0.120 | 22 | 35387420 | intron variant | A/G | snv | 0.64 | 2 | ||
rs1329122220 | 1.000 | 0.080 | 22 | 19766433 | missense variant | C/A | snv | 2.4E-05 | 1 |