Variant: rs1052078370 

    present in Gene: CNGB3
    present in Chromosome: 8
    Position on Chromosome: 86739658
    Alleles of this Variant: G/A;C

rs1052078370 in CNGB3 gene and Achromatopsia 3 PMID 28795510 2017 CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.