Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554901580
TPP1
1.000 0.120 11 6615251 inframe insertion -/CGGCCACTGGCA delins 1
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs1057516511
TPP1
1.000 0.120 11 6614687 splice acceptor variant C/T snv 7.0E-06 1
rs1057516667
TPP1
1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 1
rs1424116749
TPP1
1.000 0.120 11 6616076 splice acceptor variant T/A;C snv 1
rs1554901731
TPP1
1.000 0.120 11 6616075 splice acceptor variant C/T snv 1
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs1057516366
TPP1
1.000 0.120 11 6617052 frameshift variant -/A delins 1
rs1057516579
TPP1
1.000 0.120 11 6614576 frameshift variant -/G delins 1
rs1057517313
TPP1
1.000 0.120 11 6616728 frameshift variant G/- delins 1
rs1407106889
TPP1
1.000 0.120 11 6615203 frameshift variant GT/- delins 1
rs1554901463
TPP1
1.000 0.120 11 6614617 frameshift variant GACCAGAGCAG/- delins 1
rs1554901576
TPP1
1.000 0.120 11 6615228 frameshift variant GA/- delins 1
rs1554902085
TPP1
1.000 0.120 11 6617648 frameshift variant -/A delins 1
rs778232650
TPP1
1.000 0.120 11 6616411 frameshift variant CATAGCTC/- delins 4.0E-06 1
rs886041487
TPP1
1.000 0.120 11 6616451 frameshift variant AT/- del 1
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv 2
rs113019349
TPP1
0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs1554902028
TPP1
1.000 0.120 11 6617352 splice donor variant A/G snv 1