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
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 25
rs13107325 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 24
rs79105258 12 111280427 intron variant C/A;T snv 23
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 19
rs7705526 0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 14
rs112505971 10 27068541 intron variant A/C;G snv 13
rs3123543 1 212617344 intron variant T/A;C snv 13
rs3840870 17 50184820 3 prime UTR variant -/CTTG delins 13
rs35188965 5 1104823 intron variant C/G;T snv 12
rs198851 6 26104404 downstream gene variant T/A;C;G snv 11
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 10
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv 7
rs8887 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 6
rs9349205 6 41957421 intron variant G/A;C snv 6
rs9472135 0.925 0.120 6 43842065 intron variant T/A;C;G snv 6
rs3218097 6 41937537 intron variant G/A;T snv 5
rs4672497 2 62296430 TF binding site variant C/G;T snv 5
rs4820268 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 5
rs62160676 2 111410354 intron variant T/C;G snv 5
rs9804550 11 5164863 intergenic variant T/A;C snv 5
rs113700287 3 24293020 intron variant -/GTT delins 4
rs13335629 16 260381 intron variant G/A;C snv 1.1E-02 4
rs150844304 15 43434427 intron variant A/C;G snv 4