Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908205
rs121908205
TPP1
1 1.000 0.120 11 6617057 missense variant G/A snv 0.800 1.000 17 1997 2012
dbSNP: rs121908196
rs121908196
TPP1
1 1.000 0.120 11 6616687 missense variant A/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908198
rs121908198
TPP1
1 1.000 0.120 11 6615554 missense variant A/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908199
rs121908199
TPP1
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908201
rs121908201
TPP1
1 1.000 0.120 11 6615235 missense variant G/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908206
rs121908206
TPP1
1 1.000 0.120 11 6616333 missense variant T/G snv 0.700 1.000 14 1997 2012
dbSNP: rs121908207
rs121908207
TPP1
1 1.000 0.120 11 6616718 missense variant C/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908208
rs121908208
TPP1
1 1.000 0.120 11 6614973 missense variant C/G snv 0.700 1.000 14 1997 2012
dbSNP: rs121908210
rs121908210
TPP1
1 1.000 0.120 11 6614608 missense variant G/A snv 0.700 1.000 14 1997 2012
dbSNP: rs1554902028
rs1554902028
TPP1
1 1.000 0.120 11 6617352 splice donor variant A/G snv 0.700 1.000 14 1997 2012
dbSNP: rs786204553
rs786204553
TPP1
1 1.000 0.120 11 6614865 splice donor variant C/A;G;T snv 0.700 1.000 4 2011 2015
dbSNP: rs786204753
rs786204753
TPP1
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 1.000 3 2001 2012
dbSNP: rs1554902052
rs1554902052
TPP1
2 0.925 0.120 11 6617430 splice acceptor variant T/C snv 0.700 1.000 2 2001 2015
dbSNP: rs1424116749
rs1424116749
TPP1
1 1.000 0.120 11 6616076 splice acceptor variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1554902085
rs1554902085
TPP1
1 1.000 0.120 11 6617648 frameshift variant -/A delins 0.700 1.000 1 2001 2001
dbSNP: rs1554902216
rs1554902216
TPP1
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057516319
rs1057516319
TPP1
1 1.000 0.120 11 6615449 stop gained G/T snv 0.700 0
dbSNP: rs1057516366
rs1057516366
TPP1
1 1.000 0.120 11 6617052 frameshift variant -/A delins 0.700 0
dbSNP: rs1057516511
rs1057516511
TPP1
1 1.000 0.120 11 6614687 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1057516579
rs1057516579
TPP1
1 1.000 0.120 11 6614576 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516667
rs1057516667
TPP1
1 1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1057516945
rs1057516945
TPP1
2 0.925 0.160 11 6616973 splice donor variant A/C snv 0.700 0
dbSNP: rs1057517313
rs1057517313
TPP1
1 1.000 0.120 11 6616728 frameshift variant G/- delins 0.700 0
dbSNP: rs113019349
rs113019349
TPP1
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 0