Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1137100 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs11591147 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs198389 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 10
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs599839 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 27
rs6136 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 17
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs80356814 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 15
rs2943634 0.763 0.200 2 226203364 intergenic variant A/C;G snv 15
rs2943641 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 18
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
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
rs185847354 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 11