Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516579
TPP1
1.000 0.120 11 6614576 frameshift variant -/G delins 1
rs121908210
TPP1
1.000 0.120 11 6614608 missense variant G/A snv 1
rs1554901463
TPP1
1.000 0.120 11 6614617 frameshift variant GACCAGAGCAG/- delins 1
rs1057516511
TPP1
1.000 0.120 11 6614687 splice acceptor variant C/T snv 7.0E-06 1
rs786204553
TPP1
1.000 0.120 11 6614865 splice donor variant C/A;G;T snv 1
rs1184563885
TPP1
0.925 0.120 11 6614892 stop gained G/A snv 1.2E-05 7.0E-06 2
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs121908208
TPP1
1.000 0.120 11 6614973 missense variant C/G snv 1
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 2
rs121908203
TPP1
1.000 0.120 11 6615179 missense variant C/T snv 4.0E-06 1.4E-05 1
rs1407106889
TPP1
1.000 0.120 11 6615203 frameshift variant GT/- delins 1
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1554901576
TPP1
1.000 0.120 11 6615228 frameshift variant GA/- delins 1
rs121908201
TPP1
1.000 0.120 11 6615235 missense variant G/T snv 1
rs1554901580
TPP1
1.000 0.120 11 6615251 inframe insertion -/CGGCCACTGGCA delins 1
rs119455956
TPP1
0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 2
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 2
rs1057516319
TPP1
1.000 0.120 11 6615449 stop gained G/T snv 1
rs121908199
TPP1
0.925 0.120 11 6615542 missense variant C/T snv 2
rs121908198
TPP1
1.000 0.120 11 6615554 missense variant A/T snv 1
rs113019349
TPP1
0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs1564854729
TPP1
1.000 0.120 11 6616052 stop gained C/T snv 1
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 2
rs119455953
TPP1
1.000 0.120 11 6616057 missense variant A/G snv 7.0E-06 1