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: 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: rs121908205
rs121908205
TPP1
1 1.000 0.120 11 6617057 missense variant G/A snv 0.800 1.000 17 1997 2012
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: 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: 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: rs121908201
rs121908201
TPP1
1 1.000 0.120 11 6615235 missense variant G/T snv 0.700 1.000 14 1997 2012
dbSNP: rs121908203
rs121908203
TPP1
1 1.000 0.120 11 6615179 missense variant C/T snv 4.0E-06 1.4E-05 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: rs28940573
rs28940573
TPP1
1 1.000 0.120 11 6617046 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 14 1997 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: 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: 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: 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: 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: 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