Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs9794 0.882 0.200 6 35428018 3 prime UTR variant G/A;C;T snv 4
rs1008805 0.851 0.160 15 51257402 intron variant G/A snv 0.64 7
rs2066718 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 7
rs1314386070 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 9
rs2016520 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 16
rs688 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 16
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs2230806 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 24
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs2043211 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs1799889 0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs1800730 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs4986938 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 35
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs268
LPL
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 41
rs6318 0.623 0.520 X 114731326 missense variant C/G;T snv 42
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs7412 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 47
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs1333049 0.614 0.520 9 22125504 intron variant G/C snv 0.41 60
rs9340799 0.583 0.680 6 151842246 intron variant A/G snv 0.32 62