Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636273
rs62636273
A 0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521

2018

dbSNP: rs62636273
rs62636273
A 0.700 CausalMutation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725

2004