Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5015480 0.851 0.120 10 92705802 downstream gene variant C/T snv 0.42 9
rs7169289 1.000 0.040 15 57951485 downstream gene variant G/A snv 0.83 2
rs1956545 14 64386187 intron variant C/T snv 0.92 1
rs452159
ADA
1.000 0.040 20 44642461 intron variant G/T snv 0.28 2
rs2276731 3 126155545 non coding transcript exon variant C/T snv 0.83 0.83 1
rs2305225 3 126131662 intron variant G/A snv 0.64 1
rs4646733 3 126131258 intron variant C/T snv 0.64 1
rs766422988
AMT
3 49417962 stop gained G/A snv 1.6E-05 1.4E-05 1
rs11247593 1 26725589 intron variant G/A snv 0.30 1
rs749437638 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 14
rs3733890 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 16
rs777628969 19 12940603 missense variant A/C snv 8.0E-06 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13
rs2336573 19 8302825 missense variant C/T snv 5.9E-02 0.12 1
rs9426 19 8302274 3 prime UTR variant C/T snv 5.5E-02 0.12 1
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs4633 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 25
rs1445081098 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 17
rs778976254 1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05 2
rs562920966 14 58645694 missense variant A/T snv 8.0E-06 1
rs771174392 0.925 0.200 2 25235779 missense variant T/C snv 3
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1206846668 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 16
rs368939818 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 13