Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204051
rs118204051
CC2D2A
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs118204052
rs118204052
CC2D2A
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201502401
rs201502401
CC2D2A
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs386833752
rs386833752
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs386833752
rs386833752
CC2D2A
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs754221308
rs754221308
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs754221308
rs754221308
CC2D2A
C 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs763486732
rs763486732
CC2D2A
A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs763486732
rs763486732
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs779823379
rs779823379
CC2D2A
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs779823379
rs779823379
CC2D2A
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546

2015
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503

2012
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503

2012
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439

2012
dbSNP: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503

2012