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: rs1057516965
rs1057516965
CLTA ; GNE
1 1.000 0.120 9 36222993 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs1057516597
rs1057516597
CLTA ; GNE
1 1.000 0.120 9 36223372 splice donor variant C/- delins 0.700 0
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: rs786204558
rs786204558
CLTA ; GNE
1 1.000 0.120 9 36223478 stop gained G/A snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1057516705
rs1057516705
CLTA ; GNE
1 1.000 0.120 9 36223501 splice acceptor variant C/- delins 0.700 0
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: rs747199032
rs747199032
CLTA ; GNE
1 1.000 0.120 9 36227271 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs1057516275
rs1057516275
CLTA ; GNE
1 1.000 0.120 9 36227371 frameshift variant T/- delins 0.700 0
dbSNP: rs199877522
rs199877522
CLTA ; GNE
2 0.925 0.160 9 36227397 missense variant C/A;T snv 1.6E-04; 1.2E-05 0.700 1.000 6 2002 2014
dbSNP: rs886043636
rs886043636
CLTA ; GNE
2 0.925 0.160 9 36229018 splice donor variant -/A delins 0.700 0
dbSNP: rs1455785164
rs1455785164
CLTA ; GNE
1 1.000 0.120 9 36233985 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 12 2001 2004
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: rs121908628
rs121908628
CLTA ; GNE
1 1.000 0.120 9 36233993 stop gained A/T snv 0.700 0
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: 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: rs1057516746
rs1057516746
CLTA ; GNE
1 1.000 0.120 9 36234046 stop gained G/A snv 0.700 0
dbSNP: rs762106720
rs762106720
CLTA ; GNE
1 1.000 0.120 9 36234073 missense variant G/A;C snv 2.0E-05 0.700 1.000 6 2008 2014
dbSNP: rs121908629
rs121908629
CLTA ; GNE
1 1.000 0.120 9 36236864 missense variant C/G;T snv 2.8E-05 0.800 1.000 20 2001 2016
dbSNP: rs773729410
rs773729410
CLTA ; GNE
2 0.925 0.160 9 36236865 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 21 2001 2015
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: rs1554661552
rs1554661552
CLTA ; GNE
1 1.000 0.120 9 36236920 frameshift variant -/T delins 0.700 0
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: rs1057516906
rs1057516906
CLTA ; GNE
1 1.000 0.120 9 36236946 stop gained G/A snv 4.0E-06 0.700 0
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: rs1554661561
rs1554661561
CLTA ; GNE
1 1.000 0.120 9 36236961 frameshift variant A/- delins 0.700 0