{{Rsnum
|rsid=121917777
|Gene=BBS1
|Chromosome=11
|position=66531692
|Orientation=plus
|GMAF=0.0004591
|Gene_s=BBS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{omim
|id=209901
|rsnum=121917777
|variant=0002
}}{{ClinVar
|rsid=121917777
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=66299163
|CHROM=11
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=BBS1:582
|GENE_NAME=BBS1
|GENE_ID=582
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.66299163G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=209901.0002
|CLNSIG=5
|CLNCUI=C2936862
|CLNDBN=Bardet-Biedl syndrome 1
|Disease=Bardet-Biedl syndrome 1
|CLNACC=RCV000012927.15
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen
|CLNDSDBID=NBK1363:C2936862
|COMMON=0
}}