Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28937594
rs28937594
CLTA ; GNE
0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.900 1.000 5 2001 2017
dbSNP: rs121908632
rs121908632
CLTA ; GNE
1.000 0.120 9 36219940 missense variant C/G snv 1.6E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.840 1.000 0 2001 2007
dbSNP: rs139425890
rs139425890
CLTA ; GNE
1.000 0.120 9 36246120 missense variant T/A snv 5.2E-05 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.820 1.000 12 2001 2019
dbSNP: rs121908627
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.810 1.000 13 2001 2017
dbSNP: rs748949603
rs748949603
CLTA ; GNE
0.925 0.160 9 36219894 missense variant A/G snv 4.0E-06 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.810 1.000 8 2001 2015
dbSNP: rs769215411
rs769215411
CLTA ; GNE
1.000 0.120 9 36246163 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.810 1.000 3 2001 2017
dbSNP: rs121908623
rs121908623
CLTA ; GNE
0.925 0.120 9 36234114 missense variant C/A snv
CUI: C0342853
Disease: Sialuria
Sialuria 		0.810 1.000 0 1989 2017
dbSNP: rs121908629
rs121908629
CLTA ; GNE
1.000 0.120 9 36236864 missense variant C/G;T snv 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 10 2001 2016
dbSNP: rs62541771
rs62541771
CLTA ; GNE
0.925 0.160 9 36218224 missense variant G/A snv 8.7E-05 1.0E-04
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 10 2001 2014
dbSNP: rs773729410
rs773729410
CLTA ; GNE
0.925 0.160 9 36236865 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 10 2001 2015
dbSNP: rs764698870
rs764698870
CLTA ; GNE
0.925 0.160 9 36222839 missense variant G/A;T snv 4.8E-05; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 7 2001 2015
dbSNP: rs779694939
rs779694939
CLTA ; GNE
0.925 0.160 9 36236954 missense variant A/G snv 2.4E-05 4.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 5 2002 2014
dbSNP: rs387906347
rs387906347
CLTA ; GNE
1.000 0.120 9 36219856 missense variant C/T snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 4 2001 2008
dbSNP: rs1554658910
rs1554658910
CLTA ; GNE
1.000 0.120 9 36222854 missense variant T/C snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 3 2001 2015
dbSNP: rs539332585
rs539332585
CLTA ; GNE
1.000 0.120 9 36246118 missense variant G/A snv 1.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 3 2001 2015
dbSNP: rs121908622
rs121908622
CLTA ; GNE
1.000 0.120 9 36234105 missense variant C/T snv
CUI: C0342853
Disease: Sialuria
Sialuria 		0.800 1.000 0 1989 2001
dbSNP: rs121908625
rs121908625
CLTA ; GNE
1.000 0.120 9 36219927 missense variant C/T snv 8.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 0 2001 2004
dbSNP: rs121908626
rs121908626
CLTA ; GNE
1.000 0.120 9 36218225 missense variant C/T snv 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 0 2001 2004
dbSNP: rs121908633
rs121908633
CLTA ; GNE
1.000 0.120 9 36233994 missense variant CA/AC mnv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 0 2001 2004
dbSNP: rs121908634
rs121908634
CLTA ; GNE
1.000 0.120 9 36246136 missense variant T/C snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 0 2001 2004
dbSNP: rs1554664064
rs1554664064
CLTA ; GNE
1.000 0.120 9 36249277 missense variant G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.800 1.000 0 2001 2004
dbSNP: rs1057516798
rs1057516798
CLTA ; GNE
1.000 0.120 9 36222887 missense variant A/G snv 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.720 1.000 4 2011 2015
dbSNP: rs121908627
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C0342853
Disease: Sialuria
Sialuria 		0.700 1.000 13 2001 2017
dbSNP: rs199877522
rs199877522
CLTA ; GNE
0.925 0.160 9 36227397 missense variant C/A;T snv 1.6E-04; 1.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.700 1.000 6 2002 2014
dbSNP: rs748704459
rs748704459
CLTA ; GNE
1.000 0.120 9 36246261 missense variant C/T snv 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.700 1.000 6 2004 2014