Disease: OROFACIODIGITAL SYNDROME VI ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756856188
rs756856188
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015