Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3736228 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 13
rs66527965 0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs759191907 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs104893941 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 9
rs2073617 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 9
rs587784177 0.790 0.280 5 177283827 missense variant G/A snv 20
rs1064795104 0.790 0.440 2 72498492 stop gained A/C snv 17
rs863225045 0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs72645347 0.790 0.280 17 50196337 missense variant G/A snv 10
rs235768 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 8
rs139751598 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs1423415130 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 6
rs1555222973 0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs4988321 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 4
rs749292 0.851 0.160 15 51266534 intron variant G/A snv 0.44 4
rs751093906 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 8
rs121908668 0.882 0.240 11 68357673 missense variant G/T snv 5
rs1569508922 0.882 0.160 X 111681268 missense variant T/A snv 5
rs4355801 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 5
rs2273073 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 3
rs28360457 0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02 3
rs527624522 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs1057516036 0.925 0.160 7 94423065 missense variant G/A snv 4
rs9525641 0.925 0.080 13 42573888 intron variant T/C snv 0.47 3