Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs2066853
AHR
0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 34
rs16139 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 36
rs1041981 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 25
rs1126809 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29
rs72928038 0.695 0.360 6 90267049 intron variant G/A snv 0.11 19
rs16147 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 18
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1043210477 0.701 0.520 3 49358250 missense variant G/A snv 19
rs1202989817 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 18
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs1861494 0.716 0.400 12 68157629 intron variant C/T snv 0.75 15
rs2234663 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs2111485 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 17
rs2395185 0.724 0.360 6 32465390 intron variant G/T snv 0.29 17
rs1141718 0.724 0.280 6 159688224 missense variant A/G snv 15
rs12150220 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 14
rs1805008 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 16
rs2516049 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 12
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 12
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13
rs4409785 0.752 0.240 11 95578258 intron variant T/C snv 0.13 12
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs2294020 0.763 0.280 X 49246763 missense variant A/G;T snv 10
rs12153855 0.776 0.320 6 32107027 intron variant T/C snv 0.11 11