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 | |
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 15 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 7 | |
rs3747517 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 5 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs469758 | 0.827 | 0.120 | 5 | 96786011 | intron variant | C/T | snv | 0.62 | 0.63 | 5 | |
rs11574938 | 0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 | 6 | ||
rs2234161 | 0.827 | 0.120 | 1 | 2559766 | non coding transcript exon variant | C/T | snv | 4.1E-05; 0.55 | 0.58 | 5 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 7 | ||
rs12928404 | 0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 | 15 | |
rs602662 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 15 | |
rs174535 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 11 | |
rs12718244 | 0.827 | 0.120 | 7 | 50136058 | intron variant | G/A | snv | 0.33 | 0.33 | 6 | |
rs11230563 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 6 | ||
rs2236379 | 0.790 | 0.160 | 10 | 6485181 | missense variant | G/A | snv | 0.31 | 0.30 | 6 | |
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 7 | ||
rs3197999 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 7 | |
rs2024092 | 0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 | 6 | |
rs3749171 | 0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 | 6 | |
rs12720356 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 7 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 6 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 5 | |
rs35874463 | 0.827 | 0.120 | 15 | 67165360 | missense variant | A/G | snv | 4.0E-02 | 3.4E-02 | 7 | |
rs35074907 | 0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 | 6 |