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: 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: 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: rs786204753
rs786204753
TPP1
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 1.000 3 2001 2012
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: rs1057516319
rs1057516319
TPP1
1 1.000 0.120 11 6615449 stop gained G/T snv 0.700 0
dbSNP: rs1554902043
rs1554902043
TPP1
1 1.000 0.120 11 6617386 stop gained -/T delins 0.700 0
dbSNP: rs1564854729
rs1564854729
TPP1
1 1.000 0.120 11 6616052 stop gained C/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: 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: 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: 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: 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: 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