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
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
rs653178 0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs79105258 12 111280427 intron variant C/A;T snv 24
rs17696736 0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
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
rs4820268 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs7385804 0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs7775698 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs10774625 0.763 0.320 12 111472415 intron variant A/G snv 0.66 13
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