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: 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: rs1554657922
rs1554657922
CLTA ; GNE
1 1.000 0.120 9 36217412 missense variant C/T snv 0.700 1.000 3 2004 2014
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: rs768384042
rs768384042
CLTA ; GNE
1 1.000 0.120 9 36217490 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.040 1.000 4 2002 2007
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: rs387906348
rs387906348
CLTA ; GNE
1 1.000 0.120 9 36217541 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs62541771
rs62541771
CLTA ; GNE
2 0.925 0.160 9 36218224 missense variant G/A snv 8.7E-05 1.0E-04 0.800 1.000 19 2001 2014
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: rs1382191649
rs1382191649
CLTA ; GNE
1 1.000 0.120 9 36218228 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs757523840
rs757523840
CLTA ; GNE
2 0.925 0.160 9 36218272 stop gained G/C snv 8.0E-06 2.8E-05 0.700 1.000 1 2010 2010
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: rs1057517157
rs1057517157
CLTA ; GNE
1 1.000 0.120 9 36219873 frameshift variant A/- del 0.700 1.000 1 2004 2004
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: rs1554658453
rs1554658453
CLTA ; GNE
1 1.000 0.120 9 36219914 frameshift variant G/- delins 0.700 0
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: 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
dbSNP: rs886044449
rs886044449
CLTA ; GNE
1 1.000 0.120 9 36219968 frameshift variant G/- del 0.700 0
dbSNP: rs886043979
rs886043979
CLTA ; GNE
1 1.000 0.120 9 36219984 missense variant A/G snv 0.700 0
dbSNP: rs1057516340
rs1057516340
CLTA ; GNE
1 1.000 0.120 9 36222794 frameshift variant AACAAAGT/- delins 0.700 0
dbSNP: rs764698870
rs764698870
CLTA ; GNE
2 0.925 0.160 9 36222839 missense variant G/A;T snv 4.8E-05; 4.0E-06 0.800 1.000 18 2001 2015
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: rs1057516657
rs1057516657
CLTA ; GNE
1 1.000 0.120 9 36222866 frameshift variant CT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs754892377
rs754892377
CLTA ; GNE
1 1.000 0.120 9 36222885 missense variant G/A snv 8.0E-06 0.700 1.000 4 2011 2017
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: 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