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: 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: rs1057516746
rs1057516746
CLTA ; GNE
1 1.000 0.120 9 36234046 stop gained G/A snv 0.700 0
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: 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: rs121908628
rs121908628
CLTA ; GNE
1 1.000 0.120 9 36233993 stop gained A/T snv 0.700 0
dbSNP: rs1357906793
rs1357906793
CLTA ; GNE
1 1.000 0.120 9 36246075 stop gained G/C snv 7.0E-06 0.700 0
dbSNP: rs1382191649
rs1382191649
CLTA ; GNE
1 1.000 0.120 9 36218228 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1423445315
rs1423445315
CLTA ; GNE
1 1.000 0.120 9 36246259 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs1554658453
rs1554658453
CLTA ; GNE
1 1.000 0.120 9 36219914 frameshift variant G/- delins 0.700 0
dbSNP: rs1554661552
rs1554661552
CLTA ; GNE
1 1.000 0.120 9 36236920 frameshift variant -/T delins 0.700 0
dbSNP: rs1554661561
rs1554661561
CLTA ; GNE
1 1.000 0.120 9 36236961 frameshift variant A/- delins 0.700 0
dbSNP: rs1554661569
rs1554661569
CLTA ; GNE
1 1.000 0.120 9 36236970 frameshift variant -/T delins 0.700 0
dbSNP: rs1554664090
rs1554664090
CLTA ; GNE
1 1.000 0.120 9 36249361 stop gained G/A snv 0.700 0
dbSNP: rs1563946658
rs1563946658
CLTA ; GNE
1 1.000 0.120 9 36246202 missense variant C/A 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: rs745517517
rs745517517
CLTA ; GNE
1 1.000 0.120 9 36246472 stop gained G/A snv 2.8E-05 0.700 0
dbSNP: rs886043636
rs886043636
CLTA ; GNE
2 0.925 0.160 9 36229018 splice donor variant -/A delins 0.700 0
dbSNP: rs886043979
rs886043979
CLTA ; GNE
1 1.000 0.120 9 36219984 missense variant A/G snv 0.700 0
dbSNP: rs886044449
rs886044449
CLTA ; GNE
1 1.000 0.120 9 36219968 frameshift variant G/- del 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