Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs2104286 0.662 0.440 10 6057082 intron variant T/C snv 0.18 25
rs2227982 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 24
rs10204525 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 20
rs1065489
CFH
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 19
rs30187 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 14
rs33996649 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 13
rs3810936 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 12
rs10758669 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 10
rs11594656 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 9
rs1495965 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 8
rs1048709 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 8
rs4505848 0.776 0.400 4 122211337 intron variant A/G snv 0.29 8
rs7656411 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs4788084 0.827 0.200 16 28528527 downstream gene variant C/T snv 0.36 6
rs2269067
C5
0.827 0.360 9 120974762 intron variant G/C snv 0.20 0.30 5
rs12722495 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 5
rs4937362 0.827 0.240 11 128622844 intron variant T/C snv 0.49 5
rs7356506
CFI
0.851 0.120 4 109762298 non coding transcript exon variant G/A snv 0.63 4
rs897200 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 4
rs11938228 0.882 0.120 4 153700794 intron variant C/A;T snv 4
rs10863888 0.851 0.280 1 211329427 intron variant A/C;G;T snv 4
rs10975003 0.882 0.080 9 5213687 intergenic variant T/C snv 0.43 3