Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3740066 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs2273697 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs1249144069 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs1471281484 1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2
rs1555050165 0.925 0.200 11 105926814 missense variant A/G snv 3
rs752306 0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 3
rs1555050158 0.925 0.200 11 105926808 missense variant A/T snv 2
rs1555050171 0.925 0.200 11 105926821 missense variant C/G snv 2
rs1555050174 0.925 0.200 11 105926824 missense variant C/T snv 2
rs3758653 1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs765556214 1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 1
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs869025287 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 2
rs225010 1.000 0.200 14 80205936 intron variant C/T snv 0.51 2
rs225012 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 2
rs113994097 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs185645212 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs1555455456 1.000 0.200 15 43753826 missense variant G/A snv 1
rs45517305 0.851 0.240 16 2081646 stop gained C/A;T snv 5
rs878853142 1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs1555661648 0.882 0.240 18 26862297 missense variant C/G snv 6
rs723744
TTR
0.925 0.200 18 31592513 intron variant G/T snv 0.38 3
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 2
rs398123561 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs878853149 0.925 0.240 18 55350388 stop gained G/A snv 2