Variant: rs121918290

present in Gene: BEST1;LOC107984334 present in Chromosome: 11 Position on Chromosome: 61958146 Alleles of this Variant: G/A;T

rs121918290 in BEST1;LOC107984334 gene and Autosomal dominant vitreoretinochoroidopathy PMID 15452077 2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).