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
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs3732378 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 48
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 38
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
rs1047891 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 28
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs12075 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 22
rs696 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 22
rs1800961 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 21
rs2229094 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 16
rs2954021 1.000 0.040 8 125469835 intron variant A/G snv 0.54 15
rs7705526 0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs13331259 16 249924 intron variant A/G snv 3.0E-02 14
rs7385804 0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs2516839 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 14
rs2853961 6 31264212 downstream gene variant G/A snv 0.38 13
rs112505971 10 27068541 intron variant A/C;G snv 13