Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833750
rs386833750
CC2D2A
T 0.700 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs386833750
rs386833750
CC2D2A
T 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009