CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: MECKEL SYNDROME, TYPE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760915898
rs760915898
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1970161
Disease:
MECKEL SYNDROME, TYPE 4 		T 0.700 GeneticVariation CLINVAR