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: rs1554902085
rs1554902085
TPP1
1 1.000 0.120 11 6617648 frameshift variant -/A delins 0.700 1.000 1 2001 2001
dbSNP: rs1057516366
rs1057516366
TPP1
1 1.000 0.120 11 6617052 frameshift variant -/A delins 0.700 0
dbSNP: rs1554901580
rs1554901580
TPP1
1 1.000 0.120 11 6615251 inframe insertion -/CGGCCACTGGCA delins 0.700 0
dbSNP: rs1057516579
rs1057516579
TPP1
1 1.000 0.120 11 6614576 frameshift variant -/G delins 0.700 0
dbSNP: rs1554902043
rs1554902043
TPP1
1 1.000 0.120 11 6617386 stop gained -/T delins 0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
dbSNP: rs1057516945
rs1057516945
TPP1
2 0.925 0.160 11 6616973 splice donor variant A/C snv 0.700 0
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: rs1554902028
rs1554902028
TPP1
1 1.000 0.120 11 6617352 splice donor variant A/G snv 0.700 1.000 14 1997 2012
dbSNP: rs119455953
rs119455953
TPP1
1 1.000 0.120 11 6616057 missense variant A/G snv 7.0E-06 0.700 0
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: rs202189057
rs202189057
TPP1
2 0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 0.700 1.000 4 2008 2013
dbSNP: rs878855331
rs878855331
TPP1
5 0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 0.700 0
dbSNP: rs1554902216
rs1554902216
TPP1
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs886041487
rs886041487
TPP1
1 1.000 0.120 11 6616451 frameshift variant AT/- del 0.700 0
dbSNP: rs1057516264
rs1057516264
TPP1
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 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: rs869025274
rs869025274
TPP1
1 1.000 0.120 11 6617353 splice donor variant C/A;G snv 0.700 0
dbSNP: rs56144125
rs56144125
TPP1
6 0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 0.700 1.000 8 1997 2013
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: rs121908204
rs121908204
TPP1
1 1.000 0.120 11 6617626 missense variant C/A;T snv 1.2E-05 0.800 1.000 16 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: rs121908208
rs121908208
TPP1
1 1.000 0.120 11 6614973 missense variant C/G snv 0.700 1.000 14 1997 2012