Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2549513
MAF
0.851 0.080 16 79516830 downstream gene variant C/A;T snv 4
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs1800625 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs7799039 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs2276109 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 18
rs1799998 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 14
rs8179090 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs8193037 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 12
rs4819554 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 10
rs9943582 0.807 0.120 11 57237593 upstream gene variant T/C snv 0.63 8
rs12567209 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 6
rs499818 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 4
rs1028728 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 3
rs3212247 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 2
rs3754860 1.000 0.040 2 25170385 upstream gene variant C/T snv 0.22 1
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs748379243 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs5068 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs8259
BSG
0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 9
rs198358 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 4
rs10932374 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 2