Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893 0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs765379963 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1553154130 0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs869312687 0.925 0.080 1 155910695 missense variant T/G snv 8
rs587779766 0.851 0.200 1 27549742 frameshift variant CA/- delins 7
rs587779767 0.851 0.200 1 27549218 frameshift variant G/- delins 7
rs587779768 0.851 0.200 1 27549569 frameshift variant G/- delins 7
rs869312689 0.925 0.160 1 244053934 missense variant T/C snv 5
rs878855328 0.882 0.120 1 11117039 missense variant C/T snv 4
rs1131692270 1.000 0.160 1 151412327 missense variant T/C snv 2
rs1553655558 0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs886041065 0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs587777630 0.716 0.440 2 190986921 missense variant G/A snv 16
rs869312704 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs1131692272 0.851 0.240 2 100006808 missense variant C/T snv 9
rs758865880 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 8
rs770642379 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 8
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs546151500 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs864309531 0.882 0.400 2 216423668 stop gained G/T snv 5
rs869312663 0.882 0.200 2 165381114 missense variant A/G snv 5
rs1447313633 1.000 2 218649090 frameshift variant TT/- del 4
rs1559296368 1.000 2 218646330 frameshift variant C/- del 4
rs766858016 0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 4