Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs752298579 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs28934908 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs113994097 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs3740066 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs28935468 0.732 0.240 X 154030912 missense variant G/A snv 17
rs724159949 0.827 0.240 21 37486563 stop gained C/T snv 15
rs372949028 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs2273697 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs4846049 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs1476413 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs28934904 0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs61748421 0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs122445108 0.807 0.320 X 77717155 stop gained G/A snv 7
rs1555661648 0.882 0.240 18 26862297 missense variant C/G snv 6
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs724159950 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs121918524 0.827 0.200 X 54011232 missense variant A/G snv 6
rs185645212 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs121965020 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs1364926780 0.882 0.200 7 87550272 missense variant C/T snv 5