Gene: CRB1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 GeneticVariation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551

2017
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 GeneticVariation CLINVAR The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 28819299

2017
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 GeneticVariation CLINVAR Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. 27258436

2016
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 GeneticVariation CLINVAR High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. 23379534

2013