Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs142085340 1.000 0.080 19 38106538 splice region variant C/T snv 9.1E-05 3.0E-04 3
rs138551969 1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 4
rs10223666 1.000 0.040 6 43837765 intron variant G/A;C snv 3
rs10994856 0.925 0.120 10 50885488 intron variant G/A snv 0.19 5
rs10994860 0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19 5
rs10821905 0.925 0.120 10 50886333 upstream gene variant G/A;T snv 4
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs186459505 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 5
rs35258188 1.000 0.040 15 53705141 missense variant T/G snv 3.5E-03 1.5E-02 4
rs12313306 12 57358071 intron variant C/T snv 0.19 2
rs1106766 0.882 0.120 12 57415673 intron variant C/T snv 0.19 7
rs3741414 0.925 0.120 12 57450266 3 prime UTR variant C/T snv 0.19 7
rs6026578 20 58888417 5 prime UTR variant C/G snv 0.60 4
rs1407040 20 58897119 intron variant C/T snv 0.70 4
rs11554266 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 4
rs9895661 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 10
rs2079742 0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 9
rs4014195 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 7
rs202007714 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 4
rs626277 1.000 0.080 13 71773564 intron variant A/C snv 0.51 5
rs143231463 1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04 3
rs2472297 0.882 0.160 15 74735539 intergenic variant C/T snv 0.16 9
rs1394125 0.882 0.200 15 75866642 intron variant G/A;T snv 7
rs4886755 0.925 0.120 15 76005791 non coding transcript exon variant A/G;T snv 0.49 6
rs11072567 15 76006403 intron variant A/G snv 0.43 5