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: rs121908623
rs121908623
CLTA ; GNE
2 0.925 0.120 9 36234114 missense variant C/A snv 0.810 1.000 5 1989 2017
dbSNP: rs121908622
rs121908622
CLTA ; GNE
1 1.000 0.120 9 36234105 missense variant C/T snv 0.800 1.000 4 1989 2001
dbSNP: rs121908627
rs121908627
CLTA ; GNE
3 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.700 1.000 13 2001 2017
dbSNP: rs773729410
rs773729410
CLTA ; GNE
2 0.925 0.160 9 36236865 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 6 2002 2015
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 5 2002 2014
dbSNP: rs28937594
rs28937594
CLTA ; GNE
2 0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06 0.700 1.000 5 2001 2013
dbSNP: rs62541771
rs62541771
CLTA ; GNE
2 0.925 0.160 9 36218224 missense variant G/A snv 8.7E-05 1.0E-04 0.700 1.000 4 2004 2014
dbSNP: rs779694939
rs779694939
CLTA ; GNE
2 0.925 0.160 9 36236954 missense variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 4 2002 2014
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: rs121908621
rs121908621
CLTA ; GNE
1 1.000 0.120 9 36234106 missense variant G/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: rs748949603
rs748949603
CLTA ; GNE
2 0.925 0.160 9 36219894 missense variant A/G snv 4.0E-06 2.8E-05 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 0.700 0
dbSNP: rs886043636
rs886043636
CLTA ; GNE
2 0.925 0.160 9 36229018 splice donor variant -/A delins 0.700 0
dbSNP: rs80338794
rs80338794
SLC17A5
3 0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04 0.070 1.000 7 1999 2011
dbSNP: rs80338795
rs80338795
SLC17A5
3 0.882 0.120 6 73641810 stop gained T/A;C snv 3.2E-05 0.020 1.000 2 2005 2011
dbSNP: rs386833990
rs386833990
SLC17A5
2 0.925 0.120 6 73644407 splice region variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2017 2017