rs771454167, CEP290

N. diseases: 6
Disease: JOUBERT SYNDROME 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015