Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833760
rs386833760
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015

dbSNP: rs386833760
rs386833760
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
A 0.700 CausalMutation CLINVAR CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 19777577

2009