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: 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: 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: rs752164603
rs752164603
TPP1
1 1.000 0.120 11 6617022 stop gained G/A snv 4.0E-06 0.700 1.000 2 2012 2012
dbSNP: rs756564767
rs756564767
TPP1
3 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 1.000 2 1999 2012
dbSNP: rs778232650
rs778232650
TPP1
1 1.000 0.120 11 6616411 frameshift variant CATAGCTC/- delins 4.0E-06 0.700 1.000 2 1999 2001
dbSNP: rs796053439
rs796053439
TPP1
4 0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 2 2012 2017
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: 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: rs763162812
rs763162812
TPP1
2 0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2013 2013
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: rs119455953
rs119455953
TPP1
1 1.000 0.120 11 6616057 missense variant A/G snv 7.0E-06 0.700 0
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: rs1407106889
rs1407106889
TPP1
1 1.000 0.120 11 6615203 frameshift variant GT/- delins 0.700 0