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
rs7412 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
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
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
rs28601761 1.000 0.040 8 125487789 intron variant C/G snv 0.37 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
rs9917425 20 16755400 intron variant G/T snv 0.16 13
rs35188965 5 1104823 intron variant C/G;T snv 12
rs3811444 1 247876149 missense variant C/T snv 0.31 0.26 12
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 11
rs2277339 12 56752285 missense variant T/G snv 0.12 0.14 10
rs35979828 12 54292096 intron variant C/T snv 5.0E-02 9
rs17476364
HK1
10 69334748 intron variant T/C snv 6.4E-02 8
rs2075672 7 100642673 intron variant A/G snv 0.65 8
rs9487023 6 109268801 intron variant A/G snv 0.40 8