Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs12541709 1.000 0.080 8 9751081 intron variant C/G snv 0.29 2
rs7015700 1.000 0.080 8 9670197 splice donor variant G/A snv 0.23 2
rs10503380 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 2
rs11991621 1.000 0.080 8 9549072 intergenic variant C/T snv 0.18 2
rs6601328 1.000 0.080 8 9545693 regulatory region variant G/A;C snv 2
rs1340420 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 3
rs1770474 0.925 0.080 10 91833770 intron variant G/A;T snv 3
rs2279574 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 8
rs3114020 0.882 0.200 4 88162514 intron variant T/C snv 0.40 5
rs759435862 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 5
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs6495309 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 10
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs1800372 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 15
rs587782289 0.752 0.240 17 7674257 missense variant A/C;G;T snv 15
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs121913444 0.724 0.160 7 55191831 missense variant T/A;C;G snv 18
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs121913465 0.763 0.160 7 55181312 missense variant G/T snv 11
rs397517108 0.790 0.120 7 55181312 missense variant GC/TT mnv 9