Variant: rs201320564 

    present in Gene: CNGB3
    present in Chromosome: 8
    Position on Chromosome: 86628967
    Alleles of this Variant: G/A

rs201320564 in CNGB3 gene and Achromatopsia PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs201320564 in CNGB3 gene and Achromatopsia 3 PMID 28795510 2017 CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.