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: 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
dbSNP: rs1184563885
rs1184563885
TPP1
2 0.925 0.120 11 6614892 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs119455953
rs119455953
TPP1
1 1.000 0.120 11 6616057 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs119455954
rs119455954
TPP1
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.800 1.000 6 1997 2012
dbSNP: rs119455955
rs119455955
TPP1
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.710 1.000 9 1997 2017
dbSNP: rs119455956
rs119455956
TPP1
2 0.925 0.120 11 6615256 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs119455957
rs119455957
TPP1
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 1.000 6 2001 2012
dbSNP: rs119455958
rs119455958
TPP1
1 1.000 0.120 11 6616690 missense variant T/C snv 4.0E-06 0.700 1.000 5 2002 2012
dbSNP: rs1218678626
rs1218678626
TPP1
1 1.000 0.120 11 6617037 missense variant A/G snv 4.0E-06 0.700 1.000 14 1997 2012
dbSNP: rs121908195
rs121908195
TPP1
1 1.000 0.120 11 6618776 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 19 1997 2016
dbSNP: rs121908196
rs121908196
TPP1
1 1.000 0.120 11 6616687 missense variant A/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908197
rs121908197
TPP1
1 1.000 0.120 11 6616363 missense variant C/T snv 7.6E-05 8.4E-05 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: rs121908200
rs121908200
TPP1
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.800 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: rs121908202
rs121908202
TPP1
2 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 0.800 1.000 17 1997 2013