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: rs1057516667
rs1057516667
TPP1
1 1.000 0.120 11 6617777 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1057517313
rs1057517313
TPP1
1 1.000 0.120 11 6616728 frameshift variant G/- delins 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: 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: rs1554901580
rs1554901580
TPP1
1 1.000 0.120 11 6615251 inframe insertion -/CGGCCACTGGCA delins 0.700 0
dbSNP: rs1554901731
rs1554901731
TPP1
1 1.000 0.120 11 6616075 splice acceptor variant C/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: rs757953998
rs757953998
TPP1
1 1.000 0.120 11 6616750 missense variant C/T snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs779615685
rs779615685
TPP1
1 1.000 0.120 11 6619383 splice donor variant C/G;T snv 0.700 0
dbSNP: rs869025274
rs869025274
TPP1
1 1.000 0.120 11 6617353 splice donor variant C/A;G snv 0.700 0
dbSNP: rs886041487
rs886041487
TPP1
1 1.000 0.120 11 6616451 frameshift variant AT/- del 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: 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: 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: rs119455954
rs119455954
TPP1
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.800 1.000 6 1997 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: 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: 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: 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