Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 64
rs964184 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 38
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 36
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 26
rs855791 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 21
rs5744680 0.851 0.120 5 75584065 intron variant G/A snv 0.55 18
rs7775698 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs7776054 6 135097778 intron variant A/G snv 0.24 13
rs738408 0.925 0.120 22 43928850 synonymous variant C/T snv 0.28 0.22 10
rs77542162 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 10
rs17476364
HK1
10 69334748 intron variant T/C snv 6.4E-02 8
rs2075672 7 100642673 intron variant A/G snv 0.65 8
rs144861591 6 26072764 intergenic variant C/T snv 3.8E-02 6
rs4953318 2 46127912 intron variant A/C snv 0.43 5
rs74035509 16 88500925 intron variant C/T snv 0.10 5
rs1879154 15 78244813 intron variant T/A;C snv 0.37 3