Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs13331259 16 249924 intron variant A/G snv 3.0E-02 14
rs7775698 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs112505971 10 27068541 intron variant A/C;G snv 13
rs2853961 6 31264212 downstream gene variant G/A snv 0.38 13
rs3123543 1 212617344 intron variant T/A;C snv 13
rs3840870 17 50184820 3 prime UTR variant -/CTTG delins 13
rs4837892 9 121826025 intron variant G/T snv 0.36 13
rs7296503 12 41306962 intron variant C/T snv 0.57 13
rs76792961 16 243594 intron variant C/T snv 7.3E-03 13
rs7776054 6 135097778 intron variant A/G snv 0.24 13
rs9399137 0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs9917425 20 16755400 intron variant G/T snv 0.16 13
rs11066301 0.827 0.200 12 112433568 intron variant A/G snv 0.30 12
rs3811444 1 247876149 missense variant C/T snv 0.31 0.26 12
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs4895441 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 10
rs739496 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 10
rs2075672 7 100642673 intron variant A/G snv 0.65 8
rs9376090 6 135090090 intron variant T/C snv 0.19 7
rs8176747
ABO
9 133255928 missense variant C/A;G snv 4.1E-06; 0.12 6
rs142550358 9 88777772 intron variant CT/- delins 3.9E-02 5
rs7529925 1 199038079 intron variant C/T snv 0.77 4