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: rs886043636
rs886043636
CLTA ; GNE
2 0.925 0.160 9 36229018 splice donor variant -/A delins 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: rs1554661552
rs1554661552
CLTA ; GNE
1 1.000 0.120 9 36236920 frameshift variant -/T delins 0.700 0
dbSNP: rs1554661569
rs1554661569
CLTA ; GNE
1 1.000 0.120 9 36236970 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517157
rs1057517157
CLTA ; GNE
1 1.000 0.120 9 36219873 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1057516965
rs1057516965
CLTA ; GNE
1 1.000 0.120 9 36222993 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1554661561
rs1554661561
CLTA ; GNE
1 1.000 0.120 9 36236961 frameshift variant A/- delins 0.700 0
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: rs28937594
rs28937594
CLTA ; GNE
2 0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06 0.900 1.000 26 2001 2017
dbSNP: rs748949603
rs748949603
CLTA ; GNE
2 0.925 0.160 9 36219894 missense variant A/G snv 4.0E-06 2.8E-05 0.810 1.000 19 2001 2015
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: rs779694939
rs779694939
CLTA ; GNE
2 0.925 0.160 9 36236954 missense variant A/G snv 2.4E-05 4.2E-05 0.800 1.000 5 2002 2014
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: 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: 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: rs886043979
rs886043979
CLTA ; GNE
1 1.000 0.120 9 36219984 missense variant A/G snv 0.700 0
dbSNP: rs200763627
rs200763627
CLTA ; GNE ; LOC102724322
2 0.925 0.160 9 36276927 stop gained A/G;T snv 8.1E-06; 2.0E-04 0.700 0
dbSNP: rs121908628
rs121908628
CLTA ; GNE
1 1.000 0.120 9 36233993 stop gained A/T snv 0.700 0
dbSNP: rs1057516340
rs1057516340
CLTA ; GNE
1 1.000 0.120 9 36222794 frameshift variant AACAAAGT/- delins 0.700 0
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: rs1057516597
rs1057516597
CLTA ; GNE
1 1.000 0.120 9 36223372 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516705
rs1057516705
CLTA ; GNE
1 1.000 0.120 9 36223501 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1563946658
rs1563946658
CLTA ; GNE
1 1.000 0.120 9 36246202 missense variant C/A snv 0.700 0
dbSNP: rs886044514
rs886044514
CLTA ; GNE
2 1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
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