{{Rsnum
|rsid=35520756
|Gene=BBS1
|Chromosome=11
|position=66519725
|Orientation=plus
|GMAF=0.02066
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BBS1
}}{{omim
|id=209901
|rsnum=35520756
|variant=0006
}}

{{ population diversity
| geno1 = (A;A)
| geno2 = (A;G)
| geno3 = (G;G)
| CEU | 0.0 | 0.0 | 100.0
| CHB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 3.3 | 18.3 | 78.3
}}

{{ClinVar
|rsid=35520756
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=66287196
|CHROM=11
|GMAF=0.0206
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050168000000150516110100
|GENEINFO=BBS1:582
|GENE_NAME=BBS1
|GENE_ID=582
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.66287196G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=209901.0006
|CLNSIG=5
|CLNCUI=C1859565
|CLNDBN=Bardet-Biedl syndrome 7; Bardet-Biedl syndrome
|Disease=Bardet-Biedl syndrome 7; Bardet-Biedl syndrome
|CLNACC=RCV000012931.21; RCV000029405.1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9793; 0.02066
|CLNDSDB=GeneReviews:MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1363:C1859565; NBK1363:C0752166:209900:110:5619004
|COMMON=1
}}

{{PMID|12567324|OA=1
}} Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

{{PMID|12677556|OA=1
}} Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

{{GET Evidence
|gene=BBS1
|aa_change=Glu234Lys
|aa_change_short=E234K
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35520756
|overall_frequency_n=369
|overall_frequency_d=10758
|overall_frequency=0.0343001
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.995
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=6
|webscore=N
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}