Variant: rs752125512 

    present in Gene: FTH1;BEST1
    present in Chromosome: 11
    Position on Chromosome: 61962569
    Alleles of this Variant: T/-

rs752125512 in FTH1;BEST1 gene and Vitelliform Macular Dystrophy PMID 24560797 2014 Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

PMID 21467170 2011 A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.