Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516674 0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs776035233 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 5
rs779114194 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 4
rs41469945 0.925 0.080 16 173581 missense variant T/C;G snv 3
rs11854484 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 2
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs10132552 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 3
rs121918367 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 5
rs1060499688 0.882 0.200 12 101753399 missense variant A/G snv 4
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs5744256 0.827 0.120 11 112152125 intron variant A/G snv 0.16 6
rs4150558 0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 3
rs33950542
HBB
1.000 0.040 11 5226665 missense variant A/C;G snv 1
rs542998 1.000 0.040 11 63719914 missense variant T/A;C snv 0.81 1
rs1934951 0.925 0.160 10 95038791 intron variant C/T snv 0.24 4
rs10761745 0.882 0.240 10 63341311 intron variant G/C snv 0.87 3
rs7072268
HK1
0.925 0.120 10 69340157 intron variant T/C snv 0.54 2
rs12762549 1.000 0.040 10 99861014 intergenic variant C/G;T snv 1
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs775910328 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 3
rs1470452230 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 2