CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Retinal Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834158
rs386834158
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967 2007
dbSNP: rs137852832
rs137852832
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs371496675
rs371496675
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs747835249
rs747835249
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs878853361
rs878853361
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs878853362
rs878853362
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR