Disease: JOUBERT SYNDROME 10 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225211
rs863225211
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015