{{Rsnum
|rsid=6471482
|Gene=CNGB3
|Chromosome=8
|position=86667075
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.06841
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=CNGB3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.9 | 27.4 | 71.7
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 10.5 | 89.5
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 6.9 | 93.1
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 17.2 | 82.8
| MKK | 0.0 | 6.4 | 93.6
| TSI | 1.0 | 18.6 | 80.4
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6471482
|allele=C
|frequency=0.833
|uid=1103652373267
|type=homozygous_SNP
|hugo=CNGB3
|ensembl gene=ENSG00000170289
|ensembl transcript=ENST00000320005
|sift=AFFECT FUNCTION
|disease=Defects in CNGB3 are a cause of achromatopsia 3 (ACHM3) (MIM:262300); also known as Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of the consistent concurrence of severe myopia.
}}

{{GET Evidence
|gene=CNGB3
|aa_change=Cys234Trp
|aa_change_short=C234W
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6471482
|overall_frequency_n=9465
|overall_frequency_d=10758
|overall_frequency=0.87981
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=102
|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=7
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}