Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2228468 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 1
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv 9
rs7776054 6 135097778 intron variant A/G snv 0.24 2
rs10147992 14 25034593 intron variant A/G;T snv 1
rs1800973
LYZ
0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 1
rs3095254 6 31253891 intergenic variant C/A;G snv 0.55 1
rs653178 0.672 0.600 12 111569952 intron variant C/T snv 0.67 17
rs445 7 92779056 intron variant C/T snv 0.14 2
rs11190141 1.000 0.040 10 99532633 upstream gene variant C/T snv 0.40 1
rs12988934 2 181458938 non coding transcript exon variant C/T snv 5.9E-02 1
rs1449263 1.000 0.080 2 181454574 upstream gene variant C/T snv 0.56 1
rs12075 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 3
rs10276619 1.000 0.080 7 50273756 downstream gene variant G/A snv 0.59 1
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv 9
rs10956483 8 129559864 intron variant G/A;C snv 1
rs1991866 8 129611859 intron variant G/A;C snv 1
rs9880192 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 1
rs10098310 8 129601368 intron variant G/A;T snv 1
rs3731211 9 21986848 intron variant T/A snv 0.74 1
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 1
rs2814778 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 3
rs7578982 2 111078961 intron variant T/C snv 0.27 2
rs10980800 9 111153625 intron variant T/C snv 0.21 1
rs11611647 12 4224753 intergenic variant T/C snv 0.22 1
rs12711490 0.925 0.080 16 85939422 intron variant T/C snv 0.18 1