Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del 7
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv 5
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06 4
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
rs121908199
TPP1
0.925 0.120 11 6615542 missense variant C/T snv 2
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 2
rs121908209
TPP1
0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 2
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 2
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs1057516319
TPP1
1.000 0.120 11 6615449 stop gained G/T snv 1
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
rs1057516667
TPP1
1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 1
rs1057517313
TPP1
1.000 0.120 11 6616728 frameshift variant G/- delins 1
rs119455958
TPP1
1.000 0.120 11 6616690 missense variant T/C snv 4.0E-06 1
rs1218678626
TPP1
1.000 0.120 11 6617037 missense variant A/G snv 4.0E-06 1