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: rs1085307101
rs1085307101
TRIP11
1 1.000 0.080 14 92005475 frameshift variant TTAT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1053206465
rs1053206465
TRIP11
1 1.000 0.080 14 92005419 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1294029121
rs1294029121
TRIP11
1 1.000 0.080 14 92005669 frameshift variant TTGA/- delins 4.0E-06 0.700 0
dbSNP: rs139539448
rs139539448
TRIP11
1 1.000 0.080 14 92005874 missense variant T/C snv 1.7E-03 2.1E-03 0.700 0
dbSNP: rs1566859264
rs1566859264
TRIP11
1 1.000 0.080 14 92004623 frameshift variant CT/- delins 0.700 0
dbSNP: rs1566860640
rs1566860640
TRIP11
2 1.000 0.080 14 92005847 frameshift variant TA/- delins 0.700 0
dbSNP: rs1566867763
rs1566867763
TRIP11
1 1.000 0.080 14 92017721 frameshift variant AG/- delins 0.700 0
dbSNP: rs267607138
rs267607138
TRIP11
2 0.925 0.120 14 92015729 stop gained G/A;T snv 2.0E-05 0.700 0
dbSNP: rs34761938
rs34761938
TRIP11
1 1.000 0.080 14 92011020 stop gained A/G;T snv 1.0E-03 1.0E-03 0.700 0
dbSNP: rs863223281
rs863223281
TRIP11
1 1.000 0.080 14 92025422 splice acceptor variant T/C snv 0.700 0