Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs165599 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 27
rs1132358 1.000 0.040 16 1347814 synonymous variant C/T snv 0.44 0.39 3
rs2235632 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 3
rs12454712 0.925 0.120 18 63178651 intron variant T/A;C snv 9
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs7124442 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 9
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs746682028 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 36
rs893924483 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 23
rs10835210 0.882 0.040 11 27674363 intron variant C/A;G snv 4
rs11030107 1.000 0.040 11 27673288 intron variant A/G snv 0.19 2
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 27
rs3817190 0.851 0.080 12 121274274 missense variant T/A;G snv 0.38 6
rs2254298 0.701 0.200 3 8760542 intron variant G/A snv 0.16 23
rs2268498 0.827 0.080 3 8770725 intron variant T/C snv 0.41 7
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs2941026 1.000 0.040 11 6261042 intron variant A/G snv 0.51 2
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs16916239 8 86631513 intron variant A/G snv 0.16 1
rs1049353 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 42
rs2180619 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 3
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249