Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1065852 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 19
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs2464196 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 17
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1799964 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 47
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205