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: rs121908206
rs121908206
TPP1
1 1.000 0.120 11 6616333 missense variant T/G snv 0.700 1.000 14 1997 2012
dbSNP: rs864309505
rs864309505
TPP1
10 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
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: 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: 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: 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: rs1407106889
rs1407106889
TPP1
1 1.000 0.120 11 6615203 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554901463
rs1554901463
TPP1
1 1.000 0.120 11 6614617 frameshift variant GACCAGAGCAG/- delins 0.700 0
dbSNP: rs1554901576
rs1554901576
TPP1
1 1.000 0.120 11 6615228 frameshift variant GA/- delins 0.700 0
dbSNP: rs121908201
rs121908201
TPP1
1 1.000 0.120 11 6615235 missense variant G/T snv 0.700 1.000 14 1997 2012
dbSNP: rs1057516319
rs1057516319
TPP1
1 1.000 0.120 11 6615449 stop gained G/T snv 0.700 0
dbSNP: rs553522118
rs553522118
TPP1
5 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
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
dbSNP: rs121908205
rs121908205
TPP1
1 1.000 0.120 11 6617057 missense variant G/A snv 0.800 1.000 17 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: 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: 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: 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: 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: rs1057517313
rs1057517313
TPP1
1 1.000 0.120 11 6616728 frameshift variant G/- delins 0.700 0
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: 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: rs121908199
rs121908199
TPP1
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 1.000 14 1997 2012