Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
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
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801725 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 39
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs13447075 0.882 0.120 8 127998344 non coding transcript exon variant C/A snv 4
rs2648862 0.882 0.120 8 128049539 non coding transcript exon variant C/A snv 2.9E-02 4
rs1044498 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 15
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs1042713 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs267734 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 7
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs5355 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 14
rs12513649 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 6
rs373863828 0.851 0.160 5 173108771 missense variant G/A snv 4.0E-05 8.4E-05 6
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs13333226 0.827 0.200 16 20354332 intron variant A/G snv 0.23 10
rs12917707 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 11