{{Rsnum
|rsid=121918284
|Gene=BEST1
|Chromosome=11
|position=61955892
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BEST1
}}{{omim
|id=607854
|rsnum=121918284
|variant=0013
}}{{ClinVar
|rsid=121918284
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=61723364
|CHROM=11
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000016110100
|GENEINFO=BEST1:7439
|GENE_NAME=BEST1
|GENE_ID=7439
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.61723364G>A
|CLNSRC=OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=607854.0013; 607854.0016; RISN-VMD2:c.422G>A
|CLNSIG=5
|CLNCUI=C0339510; C2678493
|CLNDBN=Vitelliform dystrophy; Bestrophinopathy, autosomal recessive; Best vitelliform macular dystrophy, multifocal; not provided
|Disease=Vitelliform dystrophy; Bestrophinopathy; Best vitelliform macular dystrophy; not provided
|CLNACC=RCV000002862.1; RCV000002863.1; RCV000023663.1; RCV000086135.1
|Tags=PM;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1167:C0339510:153700:1243:90036004; C2678493:611809:139455; C2675055
|COMMON=0
}}