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: 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
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: rs1057516374
rs1057516374
CLTA ; GNE
1 1.000 0.120 9 36233986 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516597
rs1057516597
CLTA ; GNE
1 1.000 0.120 9 36223372 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516657
rs1057516657
CLTA ; GNE
1 1.000 0.120 9 36222866 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057516705
rs1057516705
CLTA ; GNE
1 1.000 0.120 9 36223501 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1057516746
rs1057516746
CLTA ; GNE
1 1.000 0.120 9 36234046 stop gained G/A snv 0.700 0
dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
1 1.000 0.120 9 36222887 missense variant A/G snv 7.0E-06 0.720 1.000 4 2011 2015
dbSNP: rs1057516906
rs1057516906
CLTA ; GNE
1 1.000 0.120 9 36236946 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1057516915
rs1057516915
CLTA ; GNE
1 1.000 0.120 9 36246209 frameshift variant TAGA/- delins 0.700 0
dbSNP: rs1057516965
rs1057516965
CLTA ; GNE
1 1.000 0.120 9 36222993 frameshift variant A/- delins 4.0E-06 0.700 0
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: rs1191857860
rs1191857860
CLTA ; GNE
1 1.000 0.120 9 36217511 missense variant A/G snv 1.2E-05 1.4E-05 0.700 0
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: 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: rs121908625
rs121908625
CLTA ; GNE
1 1.000 0.120 9 36219927 missense variant C/T snv 8.0E-06 0.800 1.000 12 2001 2004
dbSNP: rs121908626
rs121908626
CLTA ; GNE
1 1.000 0.120 9 36218225 missense variant C/T snv 2.8E-05 0.800 1.000 12 2001 2004
dbSNP: rs121908627
rs121908627
CLTA ; GNE
3 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.810 1.000 23 2001 2017
dbSNP: rs121908628
rs121908628
CLTA ; GNE
1 1.000 0.120 9 36233993 stop gained A/T snv 0.700 0
dbSNP: rs121908629
rs121908629
CLTA ; GNE
1 1.000 0.120 9 36236864 missense variant C/G;T snv 2.8E-05 0.800 1.000 20 2001 2016
dbSNP: rs121908630
rs121908630
CLTA ; GNE
1 1.000 0.120 9 36236928 missense variant C/T snv 2.8E-05 0.700 1.000 12 2001 2004
dbSNP: rs121908631
rs121908631
CLTA ; GNE
1 1.000 0.120 9 36223405 missense variant G/A snv 0.710 1.000 12 2001 2004
dbSNP: rs121908632
rs121908632
CLTA ; GNE
1 1.000 0.120 9 36219940 missense variant C/G snv 1.6E-05 0.840 1.000 14 2001 2007