Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs8192917 | 0.925 | 0.040 | 14 | 24632954 | missense variant | C/T | snv | 0.76 | 0.72 | 2 | |
rs2236313 | 1.000 | 0.040 | 6 | 166946901 | intron variant | T/C | snv | 0.53 | 0.50 | 1 | |
rs1129038 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 6 | |
rs229527 | 0.925 | 0.160 | 22 | 37185445 | missense variant | C/A;G | snv | 0.43 | 2 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 1 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 1 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 4 | |
rs2273844 | 0.925 | 0.040 | 14 | 24634208 | 5 prime UTR variant | G/A | snv | 0.24 | 0.26 | 1 | |
rs2257167 | 0.807 | 0.200 | 21 | 33343393 | missense variant | G/C | snv | 0.18 | 0.16 | 1 | |
rs1126809 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 8 | |
rs3096697 | 0.882 | 0.200 | 6 | 32166733 | missense variant | G/A | snv | 0.16 | 0.18 | 1 | |
rs41342147 | 1.000 | 0.040 | 2 | 241468173 | missense variant | G/A;T | snv | 0.11; 8.0E-06 | 1 | ||
rs3132580 | 0.790 | 0.360 | 6 | 30952347 | missense variant | G/A | snv | 8.0E-02 | 9.3E-02 | 1 | |
rs3213758 | 0.925 | 0.040 | 16 | 53605526 | missense variant | C/T | snv | 7.3E-02 | 4.7E-02 | 2 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 6 | ||
rs1805008 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 2 | |
rs11966200 | 0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 | 1 | |
rs117744081 | 0.851 | 0.080 | 7 | 29092663 | missense variant | A/G | snv | 2.2E-02 | 2.3E-02 | 4 | |
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 20 | ||
rs72928038 | 0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 | 19 | ||
rs2111485 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 12 | ||
rs4409785 | 0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 | 12 | ||
rs6059655 | 0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 | 10 | ||
rs769449 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 8 |