Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 61
rs755622 0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
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
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
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
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs1141718 0.724 0.280 6 159688224 missense variant A/G snv 15
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
rs2516049 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 12
rs4409785 0.752 0.240 11 95578258 intron variant T/C snv 0.13 12
rs10484554 0.807 0.200 6 31306778 intron variant C/T snv 0.12 11
rs12153855 0.776 0.320 6 32107027 intron variant T/C snv 0.11 11
rs769449 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 11
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11