Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs9838915 0.882 0.120 3 126347377 intron variant G/A snv 0.19 4
rs7799039 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 33
rs499818 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 4
rs1799998 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 14
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
rs1258130495 0.882 0.040 4 147485727 missense variant G/A snv 3
rs899115126 0.882 0.080 4 147542603 missense variant G/C snv 3
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs1042713 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1800888 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 23
rs2306235 0.827 0.040 1 150150942 missense variant C/G;T snv 1.1E-02; 1.6E-05 4.4E-03 6
rs1800779 0.763 0.320 7 150992855 intron variant G/A;C snv 9
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 54
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs398122917 0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 5
rs56793579 0.851 0.240 1 156115102 missense variant C/G;T snv 5
rs794728602 1.000 0.040 1 156115168 missense variant G/A snv 3
rs61661343 0.851 0.040 1 156130687 missense variant T/C snv 4
rs57045855 0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs61195471 0.827 0.160 1 156134496 missense variant G/A snv 6
rs1553265736 0.925 0.040 1 156136080 missense variant G/C snv 4
rs2149954 0.882 0.080 5 158393594 intron variant C/T snv 0.37 5
rs1739843 0.882 0.040 1 16016759 intron variant T/C snv 0.62 4