Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs1364926780 0.882 0.200 7 87550272 missense variant C/T snv 5
rs199516560 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 5
rs1404008939 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 4
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
rs1555661648 0.882 0.240 18 26862297 missense variant C/G snv 6
rs122460151 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs122445108 0.807 0.320 X 77717155 stop gained G/A snv 7
rs4846049 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs10410239 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 2
rs6511901 1.000 0.200 19 13916839 intron variant C/T snv 0.39 2
rs1569161831 1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs165656 0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs141228574 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs121918368 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 3
rs878853152 1.000 0.200 X 120547154 frameshift variant TG/- delins 1
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
rs749457448 1.000 0.200 X 70452622 start lost A/G snv 2
rs752306 0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 3