Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147346345
rs147346345
CDHR1
0.710 GeneticVariation BEFREE To report the clinical and molecular findings in patients with retinal dystrophy associated with the c.783G>A variant in CDHR1. 31387115

2019
dbSNP: rs147346345
rs147346345
CDHR1
A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019