Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2069825 1.000 0.040 7 22725718 non coding transcript exon variant -/CC delins 6.7E-05 2
rs1449295847 10 44372999 frameshift variant -/G delins 1
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs133049 0.882 0.080 22 40635351 intron variant A/- delins 0.82 4
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs4387287 10 103918139 5 prime UTR variant A/C snv 0.69 4
rs463312 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 4
rs764948729
PLG
0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 3
rs1406961 20 63264568 intron variant A/C snv 0.87 2
rs151290 1.000 0.080 11 2800385 intron variant A/C snv 0.67 2
rs2969037 7 2494758 regulatory region variant A/C snv 0.78 1
rs312053 2 21205177 intergenic variant A/C snv 0.35 1
rs607342 6 139509081 intron variant A/C snv 0.53 1
rs693482 1 64897943 intron variant A/C snv 1
rs1044498 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 15
rs2943634 0.763 0.200 2 226203364 intergenic variant A/C;G snv 15
rs397509365 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 5
rs4923461 0.925 0.120 11 27635363 intron variant A/C;G snv 5
rs220733 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 3
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs7763350 6 43381570 intron variant A/C;G snv 0.44 1
rs9972727 16 31137821 upstream gene variant A/C;G snv 1
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs17465637 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 11
rs11084753 1.000 0.080 19 33831232 intergenic variant A/C;G;T snv 0.65 6