Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 61
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 55
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 34
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 23
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 19
rs1800961 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 17
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 17
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
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
rs9917425 20 16755400 intron variant G/T snv 0.16 13
rs35188965 5 1104823 intron variant C/G;T snv 12
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 11
rs9977672 0.827 0.120 21 39091357 intergenic variant G/A snv 0.22 10
rs150813342 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 9
rs218265 4 54542832 intergenic variant T/C snv 0.21 9
rs445 7 92779056 intron variant C/T snv 0.14 9
rs2954031 8 125479491 intron variant G/T snv 0.42 8
rs6740847 0.925 0.040 2 181443625 intergenic variant A/G snv 0.57 8