Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs780094 0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs7412 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs653178 0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs13107325 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 34
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 28
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs79105258 12 111280427 intron variant C/A;T snv 24
rs1800961 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 21
rs174533 0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 18
rs17696736 0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs102275 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 18
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 16
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs1050828 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs198851 6 26104404 downstream gene variant T/A;C;G snv 15
rs2070895 0.807 0.120 15 58431740 intron variant G/A snv 0.33 15
rs7705526 0.776 0.240 5 1285859 intron variant C/A;T snv 15