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: rs1554658910
rs1554658910
CLTA ; GNE
1 1.000 0.120 9 36222854 missense variant T/C snv 0.800 1.000 14 2001 2015
dbSNP: rs387906347
rs387906347
CLTA ; GNE
1 1.000 0.120 9 36219856 missense variant C/T snv 0.800 1.000 14 2001 2008
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: 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: rs121908633
rs121908633
CLTA ; GNE
1 1.000 0.120 9 36233994 missense variant CA/AC mnv 0.800 1.000 12 2001 2004
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: rs1554664064
rs1554664064
CLTA ; GNE
1 1.000 0.120 9 36249277 missense variant G/A snv 0.800 1.000 12 2001 2004
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: 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: 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: 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: rs372872777
rs372872777
CLTA ; GNE
1 1.000 0.120 9 36246262 stop gained G/A snv 0.700 1.000 2 2014 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: rs1554663295
rs1554663295
CLTA ; GNE
1 1.000 0.120 9 36246030 splice donor variant C/- delins 0.700 1.000 1 2004 2004
dbSNP: rs387906348
rs387906348
CLTA ; GNE
1 1.000 0.120 9 36217541 missense variant C/T snv 0.010 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: 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