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: 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: rs1554664090
rs1554664090
CLTA ; GNE
1 1.000 0.120 9 36249361 stop gained G/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: 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: rs769716748
rs769716748
CLTA ; GNE
1 1.000 0.120 9 36249325 missense variant G/A snv 0.700 1.000 4 2004 2015
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: rs1554664064
rs1554664064
CLTA ; GNE
1 1.000 0.120 9 36249277 missense variant G/A snv 0.800 1.000 12 2001 2004
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: rs918998080
rs918998080
CLTA ; GNE
1 1.000 0.120 9 36246490 splice region variant C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs745517517
rs745517517
CLTA ; GNE
1 1.000 0.120 9 36246472 stop gained G/A snv 2.8E-05 0.700 0
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: 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: rs1423445315
rs1423445315
CLTA ; GNE
1 1.000 0.120 9 36246259 frameshift variant T/- delins 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: rs1563946658
rs1563946658
CLTA ; GNE
1 1.000 0.120 9 36246202 missense variant C/A snv 0.700 0
dbSNP: rs769215411
rs769215411
CLTA ; GNE
1 1.000 0.120 9 36246163 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.810 1.000 14 2001 2017
dbSNP: rs121908634
rs121908634
CLTA ; GNE
1 1.000 0.120 9 36246136 missense variant T/C snv 0.800 1.000 12 2001 2004
dbSNP: rs139425890
rs139425890
CLTA ; GNE
1 1.000 0.120 9 36246120 missense variant T/A snv 5.2E-05 2.8E-05 0.820 1.000 24 2001 2019
dbSNP: rs539332585
rs539332585
CLTA ; GNE
1 1.000 0.120 9 36246118 missense variant G/A snv 1.2E-05 0.800 1.000 15 2001 2015
dbSNP: rs1357906793
rs1357906793
CLTA ; GNE
1 1.000 0.120 9 36246075 stop gained G/C snv 7.0E-06 0.700 0
dbSNP: rs369328625
rs369328625
CLTA ; GNE
1 1.000 0.120 9 36246049 missense variant T/A;C snv 3.6E-05; 4.0E-06 0.700 1.000 12 2001 2004
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: rs766266918
rs766266918
CLTA ; GNE
1 1.000 0.120 9 36246031 missense variant C/T snv 4.0E-06 0.700 1.000 12 2001 2004
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: rs1554661569
rs1554661569
CLTA ; GNE
1 1.000 0.120 9 36236970 frameshift variant -/T delins 0.700 0