{{Rsnum
|rsid=121918288
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=BEST1
|position=61951928
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BEST1
}}{{omim
|id=607854
|rsnum=121918288
|variant=0018
}}{{ClinVar
|rsid=121918288
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=61719400
|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.61719400T>C
|CLNSRC=OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=607854.0018; RISN-VMD2:c.122T>C
|CLNSIG=5
|CLNCUI=C2678493
|CLNDBN=Bestrophinopathy, autosomal recessive; not provided
|Disease=Bestrophinopathy; not provided
|CLNACC=RCV000002866.1; RCV000086085.1
|Tags=PM;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2678493:611809:139455
}}