Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3093467 0.925 0.080 Y 57186044 intron variant T/C snv 2
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs1799836 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 7
rs200111236 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 5
rs5978930 0.882 0.080 X 8642266 intron variant T/C;G snv 4
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs5984894 0.925 0.080 X 92138738 intron variant A/G snv 0.54 2
rs2573905 1.000 0.080 X 92147221 intron variant T/A;C snv 1
rs5915801 1.000 0.080 X 4779968 intergenic variant C/A;G snv 1
rs5963411
OTC
1.000 0.080 X 38351864 intron variant G/A;C snv 1
rs5966709 1.000 0.080 X 100589509 intron variant G/T snv 0.40 1
rs5969117 1.000 0.080 X 87181248 intergenic variant C/T snv 1
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs1801198 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs1065852 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 19
rs2071746 0.708 0.320 22 35380679 intron variant A/T snv 0.49 18
rs6971 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 11
rs2071421 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 7
rs766020740 0.851 0.120 22 19963644 missense variant C/A snv 4.0E-06 5
rs866604606 0.882 0.120 22 21772907 missense variant G/A snv 4
rs5754166 0.925 0.160 22 21576488 intron variant C/T snv 0.18 3
rs1080985 0.925 0.080 22 42132375 non coding transcript exon variant G/A;C snv 2
rs117496069 1.000 0.080 22 37009621 upstream gene variant C/T snv 1.6E-03 1
rs141503849 1.000 0.080 22 19704370 regulatory region variant C/T snv 6.3E-03 1