Variant: rs1555096248 

    present in Gene: BEST1
    present in Chromosome: 11
    Position on Chromosome: 61950428
    Alleles of this Variant: G/T

rs1555096248 in BEST1 gene and Retinal Dystrophies PMID 23290749 2013 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.