Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs10754558 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 20 | |||
rs781172058 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 16 | ||
rs371074389 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 16 | |
rs766914563 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 16 | ||
rs8321 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 16 | |
rs368234815 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 15 | |||
rs9264942 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 15 | ||
rs1063320 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 12 | |||
rs10484554 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 11 | ||
rs1126478 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 11 | |
rs241447 | 0.827 | 0.280 | 6 | 32828974 | missense variant | T/C | snv | 0.31 | 0.26 | 11 | |
rs6850 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 9 | ||
rs1800451 | 0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 | 9 | |
rs2229116 | 0.827 | 0.080 | 15 | 33613209 | missense variant | A/G | snv | 0.23 | 0.21 | 9 |