Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150291837
rs150291837
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777653
rs587777653
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
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: rs863225151
rs863225151
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015