Variant: rs121918289 

    present in Gene: LOC107984334;BEST1
    present in Chromosome: 11
    Position on Chromosome: 61955726
    Alleles of this Variant: G/A

rs121918289 in LOC107984334;BEST1 gene and Autosomal dominant vitreoretinochoroidopathy PMID 15452077 2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).