Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
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 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 18387594

2008
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs118204051
rs118204051
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
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
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 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 18387594

2008
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
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
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs118204052
rs118204052
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 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs118204053
rs118204053
CC2D2A
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs1392635342
rs1392635342
CC2D2A
TTA 0.700 GeneticVariation CLINVAR

dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503

2012
dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 18387594

2008