CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Occipital Encephalocele ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039805
rs886039805
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0014067
Disease:
Occipital Encephalocele 		T 0.700 CausalMutation CLINVAR