{{Rsnum
|rsid = 28940275
|Gene=BEST1
|geno1 = (A;A)
|geno2 = (A;C)
|geno3 = (C;C)
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|Chromosome=11
|position=61951822
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BEST1
}}{{omim
|desc=BEST MACULAR DYSTROPHY
|id=607854
|rsnum=28940275
|variant=0005
}}
{{ neighbor
| rsid = 28940276
| distance = 9
}}{{ClinVar
|rsid=28940275
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=61719294
|CHROM=11
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=BEST1:7439
|GENE_NAME=BEST1
|GENE_ID=7439
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.61719294A>C
|CLNSRC=OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=607854.0005; RISN-VMD2:c.16A>C
|CLNSIG=5
|CLNCUI=C0339510; C1842914
|CLNDBN=Vitelliform dystrophy; Macular dystrophy, vitelliform, adult-onset; Best vitelliform macular dystrophy, multifocal; not provided
|Disease=Vitelliform dystrophy; Macular dystrophy; Best vitelliform macular dystrophy; not provided
|CLNACC=RCV000002851.1; RCV000002852.1; RCV000002853.1; RCV000086095.1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1167:C0339510:153700:1243:90036004; C1842914:608161:99000; C2675055
}}