Variant: rs200277476

present in Gene: LOC107984334;BEST1 present in Chromosome: 11 Position on Chromosome: 61956946 Alleles of this Variant: C/T

rs200277476 in LOC107984334;BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 10788642 2000 Cortical image density determines the probability of target discovery during active search.

PMID 21273940 2011 Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.