Gene entry
BEST1
bestrophin 1
- Chromosome
- 11
- Cytoband
- 11q12.3
- Variants (rsID)
- 15
BEST1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q12.3). Its official name is “bestrophin 1”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs1109748Benignsingle nucleotide variantVitelliform macular dystrophy 2|Retinitis pigmentosa|Autosomal dominant vitreoretinochoroidopathy
- rs1800007Benignsingle nucleotide variantRetinitis pigmentosa|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 2|Autosomal recessive bestrophinopathy|Retinitis pigmentosa 50
- rs1801390Benignsingle nucleotide variantAutosomal dominant vitreoretinochoroidopathy|Iron Overload|Vitelliform macular dystrophy 2|Retinitis Pigmentosa, Recessive|Retinitis pigmentosa
- rs74653691Benignsingle nucleotide variantVitelliform macular dystrophy 2|Retinitis pigmentosa|Autosomal dominant vitreoretinochoroidopathy
- rs199529046Conflicting interpretationssingle nucleotide variantAutosomal recessive bestrophinopathy|Retinitis pigmentosa|BEST1-Related Disorders|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 2
- rs267606676Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 50|Retinitis pigmentosa|Retinal dystrophy
- rs200277476Pathogenicsingle nucleotide variantAutosomal recessive bestrophinopathy|Retinal dystrophy|Vitelliform macular dystrophy 2
- rs267606677Pathogenicsingle nucleotide variantVitelliform macular dystrophy 2|Retinitis pigmentosa 50
- rs281865223Pathogenicsingle nucleotide variant
- rs281865261Pathogenicsingle nucleotide variantRetinal dystrophy
- rs281865269Pathogenicsingle nucleotide variantRetinal dystrophy
- rs281865277Pathogenicsingle nucleotide variant
- rs28940570Pathogenicsingle nucleotide variantVitelliform macular dystrophy 2|Retinal dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.