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: 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: 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: rs121908209
rs121908209
TPP1
2 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 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: 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: 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: 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: 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