Gene: GNE ×
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: rs199877522
rs199877522
CLTA ; GNE
2 0.925 0.160 9 36227397 missense variant C/A;T snv 1.6E-04; 1.2E-05 0.700 1.000 6 2002 2014
dbSNP: rs748704459
rs748704459
CLTA ; GNE
1 1.000 0.120 9 36246261 missense variant C/T snv 4.0E-06 0.700 1.000 6 2004 2014
dbSNP: rs762106720
rs762106720
CLTA ; GNE
1 1.000 0.120 9 36234073 missense variant G/A;C snv 2.0E-05 0.700 1.000 6 2008 2014
dbSNP: rs1057516364
rs1057516364
CLTA ; GNE
1 1.000 0.120 9 36227267 missense variant A/G snv 0.700 1.000 5 2004 2014
dbSNP: rs1209266607
rs1209266607
CLTA ; GNE
1 1.000 0.120 9 36249318 missense variant C/G snv 0.700 1.000 4 2004 2015
dbSNP: rs1236647498
rs1236647498
CLTA ; GNE
1 1.000 0.120 9 36249276 missense variant G/A snv 0.700 1.000 4 2014 2015
dbSNP: rs754892377
rs754892377
CLTA ; GNE
1 1.000 0.120 9 36222885 missense variant G/A snv 8.0E-06 0.700 1.000 4 2011 2017
dbSNP: rs769716748
rs769716748
CLTA ; GNE
1 1.000 0.120 9 36249325 missense variant G/A snv 0.700 1.000 4 2004 2015
dbSNP: rs1554657922
rs1554657922
CLTA ; GNE
1 1.000 0.120 9 36217412 missense variant C/T snv 0.700 1.000 3 2004 2014
dbSNP: rs757091387
rs757091387
CLTA ; GNE
1 1.000 0.120 9 36234009 missense variant A/G snv 8.0E-06 0.700 1.000 3 2010 2015
dbSNP: rs759945787
rs759945787
CLTA ; GNE
1 1.000 0.120 9 36236879 missense variant A/C;G snv 8.0E-06 7.0E-06 0.700 1.000 3 2005 2011
dbSNP: rs766420673
rs766420673
CLTA ; GNE
1 1.000 0.120 9 36249334 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 2010 2015
dbSNP: rs372872777
rs372872777
CLTA ; GNE
1 1.000 0.120 9 36246262 stop gained G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs747199032
rs747199032
CLTA ; GNE
1 1.000 0.120 9 36227271 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs1057516374
rs1057516374
CLTA ; GNE
1 1.000 0.120 9 36233986 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516657
rs1057516657
CLTA ; GNE
1 1.000 0.120 9 36222866 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057517094
rs1057517094
CLTA ; GNE
1 1.000 0.120 9 36236964 frameshift variant -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1057517157
rs1057517157
CLTA ; GNE
1 1.000 0.120 9 36219873 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1212623980
rs1212623980
CLTA ; GNE
1 1.000 0.120 9 36222925 stop gained C/T snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1554663295
rs1554663295
CLTA ; GNE
1 1.000 0.120 9 36246030 splice donor variant C/- delins 0.700 1.000 1 2004 2004
dbSNP: rs757523840
rs757523840
CLTA ; GNE
2 0.925 0.160 9 36218272 stop gained G/C snv 8.0E-06 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs786204476
rs786204476
CLTA ; GNE
1 1.000 0.120 9 36246035 stop gained C/T snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs786204558
rs786204558
CLTA ; GNE
1 1.000 0.120 9 36223478 stop gained G/A snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1057516275
rs1057516275
CLTA ; GNE
1 1.000 0.120 9 36227371 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516340
rs1057516340
CLTA ; GNE
1 1.000 0.120 9 36222794 frameshift variant AACAAAGT/- delins 0.700 0