Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs758130759 | 0.925 | 0.120 | 17 | 37699149 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 3 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs2228146 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 3 | |
rs7222331 | 0.925 | 0.120 | 17 | 40995605 | upstream gene variant | C/T | snv | 0.24 | 3 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1143770 | 0.882 | 0.200 | 11 | 122146890 | intron variant | C/T | snv | 0.53 | 4 | ||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1137933 | 0.882 | 0.160 | 17 | 27778906 | synonymous variant | G/A | snv | 0.20 | 0.21 | 4 | |
rs2779248 | 0.882 | 0.160 | 17 | 27800806 | intron variant | T/C | snv | 0.39 | 4 | ||
rs11771443 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 8 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800783 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 7 | |||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs3918188 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 10 |