Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1392635342
rs1392635342
CC2D2A
TTA 0.700 GeneticVariation CLINVAR

dbSNP: rs1478902342
rs1478902342
CC2D2A
0.700 GeneticVariation UNIPROT

dbSNP: rs1560184664
rs1560184664
CC2D2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs186264635
rs186264635
CC2D2A
0.700 GeneticVariation UNIPROT

dbSNP: rs199768782
rs199768782
CC2D2A
0.700 GeneticVariation UNIPROT

dbSNP: rs386833750
rs386833750
CC2D2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs764719093
rs764719093
CC2D2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045437
rs797045437
CC2D2A
T 0.700 CausalMutation CLINVAR

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: 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: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs386833752
rs386833752
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs754221308
rs754221308
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs763486732
rs763486732
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs779823379
rs779823379
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs144439937
rs144439937
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs1473532901
rs1473532901
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs386833755
rs386833755
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs387907058
rs387907058
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs754586025
rs754586025
CC2D2A
0.700 GeneticVariation UNIPROT CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008
dbSNP: rs763425007
rs763425007
CC2D2A
0.700 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 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs118204052
rs118204052
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs201502401
rs201502401
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009
dbSNP: rs386833752
rs386833752
CC2D2A
0.800 GeneticVariation UNIPROT CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009