Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4975616 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 12
rs12296850 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 3
rs7309332 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 3
rs10503380 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 2
rs11991621 1.000 0.080 8 9549072 intergenic variant C/T snv 0.18 2
rs6601328 1.000 0.080 8 9545693 regulatory region variant G/A;C snv 2
rs750749 6 14141866 downstream gene variant T/C snv 0.27 1
rs9370729 6 14138061 downstream gene variant C/T snv 0.44 1
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1289543302 0.763 0.440 7 87536472 missense variant C/T snv 12
rs1164376164 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 6
rs3114020 0.882 0.200 4 88162514 intron variant T/C snv 0.40 5
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 5
rs863225307
APC
5 112819077 stop gained C/T snv 1
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs17757541 0.827 0.240 18 63212453 intron variant C/G;T snv 7
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs12613347 2 201190589 intron variant C/T snv 0.19 1
rs3760396 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 13