Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140522 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 4
rs1047891 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 8
rs3115663 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 6
rs3130618 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 6
rs12638862 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 2
rs6700896 0.827 0.160 1 65624099 intron variant C/T snv 0.44 1
rs3130544 0.807 0.360 6 31090563 intergenic variant C/A snv 7.4E-02 6
rs1050828 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 1
rs389884 0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02 7
rs652888 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 6
rs204999 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 12
rs2074356 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 12
rs2853677 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 1
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 1
rs855791 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 8
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 9
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 10
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 14
rs129128 6 26125114 intron variant C/T snv 0.91 7
rs130624 22 37042611 regulatory region variant G/T snv 0.47 6
rs17342717 6 25821542 intron variant C/T snv 6.1E-02 6
rs228129 22 37032558 upstream gene variant A/G snv 0.48 6
rs2413450 22 37074184 intron variant T/C snv 0.61 6
rs1320963 6 135122074 intergenic variant A/G snv 0.35 5
rs1547247 6 135069698 intron variant G/A snv 0.22 5