Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs3129859 | 0.827 | 0.320 | 6 | 32433162 | intergenic variant | G/C;T | snv | 5 | |||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs510432 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 11 | ||
rs548234 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 11 | ||
rs4656942 | 0.851 | 0.160 | 1 | 160861258 | intron variant | G/A;C;T | snv | 4 | |||
rs485618 | 0.851 | 0.160 | 1 | 160830690 | 3 prime UTR variant | T/A;C;G | snv | 0.54 | 4 | ||
rs13347 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 12 | |||
rs2234671 | 0.807 | 0.240 | 2 | 218164385 | missense variant | C/G | snv | 9.1E-02 | 0.11 | 7 | |
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs2241883 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 14 | |
rs747432300 | 0.925 | 0.120 | 8 | 144504357 | missense variant | C/A;T | snv | 8.1E-06; 1.2E-04 | 2 | ||
rs3077 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 16 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs430397 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 9 | |
rs10932029 | 0.827 | 0.200 | 2 | 203937045 | intron variant | T/A;C | snv | 5 | |||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs1358379 | 0.882 | 0.160 | 6 | 71403739 | intron variant | T/C | snv | 6.2E-02 | 3 | ||
rs1054690270 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 5 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 |