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 92
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs13107325 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 34
rs79105258 12 111280427 intron variant C/A;T snv 24
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 16
rs198851 6 26104404 downstream gene variant T/A;C;G snv 15
rs7705526 0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs4820268 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 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
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 11
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv 11
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 11
rs9472135 0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs11066188 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7
rs17630235 0.925 0.120 12 112153882 downstream gene variant G/A;C snv 7
rs198846 6 26107235 downstream gene variant A/G;T snv 7
rs8887 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 7
rs9349205 6 41957421 intron variant G/A;C snv 7
rs7753826 0.925 0.120 6 26042011 upstream gene variant T/A;C snv 6
rs115810 0.925 0.120 6 25975655 intron variant G/A;C snv 5
rs1256061 14 64236875 intron variant G/A;T snv 5