rs863225219, RPGRIP1L

N. diseases: 1
Disease: JOUBERT SYNDROME 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 7
CUI: C1969053
Disease: JOUBERT SYNDROME 7
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015