{{Rsnum
|rsid=4784677
|Gene=BBS2
|Chromosome=16
|position=56514589
|Orientation=plus
|GMAF=0.004132
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=BBS2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 2.7 | 97.3
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 1.7 | 98.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 2.0 | 98.0
| HapMapRevision=28
}}{{omim
|id=606151
|rsnum=4784677
|variant=0013
}}

{{ClinVar
|rsid=4784677
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=56548501
|CHROM=16
|GMAF=0.0041
|dbSNPBuildID=111
|SSR=0
|SAO=1
|VP=0x05016000000004051f110101
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000016.9:g.56548501C\x3d
|CLNORIGIN=1
|CLNSRCID=
606151.0013
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000004838.1
|Tags=PM;SLO;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.004132; 0.9959
|CLNDBN=Bardet-Biedl syndrome 2
|CLNDSDB=GeneReviews:MedGen
|CLNDSDBID=NBK1363:C2936863
|CLNSRC=OMIM Allelic Variant
|COMMON=1
|Disease=Bardet-Biedl syndrome 2
|GENEINFO=BBS2:583
|GENE_ID=583
|GENE_NAME=BBS2
}}

{{GET Evidence
|gene=BBS2
|aa_change=Ser70Asn
|aa_change_short=S70N
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4784677
|overall_frequency_n=10698
|overall_frequency_d=10758
|overall_frequency=0.994423
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}