Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs174594 0.776 0.160 11 61852357 intron variant C/A;T snv 13
rs198851 6 26104404 downstream gene variant T/A;C;G snv 11
rs1169288 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 8
rs11099098 0.925 0.120 4 80248758 intergenic variant G/C;T snv 5
rs149454410 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 5
rs186459505 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 5
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 5
rs79598313 1 26958422 intron variant C/A;T snv 5
rs11204682 1 150623061 intron variant G/A;T snv 4
rs11554266 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 4
rs1394125 0.882 0.200 15 75866642 intron variant G/A;T snv 4
rs201874364 1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 4
rs202007714 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 4
rs4072037 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 4
rs73728279 1.000 0.080 7 151714408 intron variant G/A;T snv 4
rs9302635 16 72110275 intron variant T/C;G snv 4
rs10011796 0.882 0.160 4 88169725 intron variant T/C;G snv 3
rs10223666 1.000 0.040 6 43837765 intron variant G/A;C snv 3
rs116568708 0.925 0.120 12 4988312 intron variant G/A;C snv 3
rs1171617 0.925 0.120 10 59707424 intron variant G/A;T snv 3
rs12908437 0.882 0.200 15 98744146 intron variant T/C;G snv 3
rs13100165 0.925 0.120 3 73225138 regulatory region variant C/A;T snv 3
rs143193096 15 98916098 missense variant G/A;C snv 8.4E-05; 4.0E-06 3