Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079

2002

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870

2002