Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833759
rs386833759
CC2D2A
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386833759
rs386833759
CC2D2A
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 GeneticVariation CLINVAR Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712

2009