Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779023431
rs779023431
CNGA3
0.010 GeneticVariation BEFREE Two compound heterozygous mutations were identified in CNGA3 of this patient, c.829C>T p.R277C and c.1580T>G p.L527R; they were not observed in the normal population and cosegregated with the phenotype of achromatopsia in the patient's family. 21911670

2011