{{Rsnum
|rsid=13265557
|Gene=CNGB3
|Chromosome=8
|position=86647872
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.05739
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CNGB3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.9 | 14.2 | 85.0
| HCB | 0.0 | 5.8 | 94.2
| JPT | 0.0 | 19.5 | 80.5
| YRI | 0.0 | 8.8 | 91.2
| ASW | 0.0 | 7.0 | 93.0
| CHB | 0.0 | 5.8 | 94.2
| CHD | 0.9 | 2.8 | 96.3
| GIH | 3.0 | 16.8 | 80.2
| LWK | 0.0 | 10.9 | 89.1
| MEX | 0.0 | 5.2 | 94.8
| MKK | 0.0 | 12.2 | 87.8
| TSI | 0.0 | 12.7 | 87.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=13265557
|allele=C
|frequency=0.075
|uid=1103652373221
|type=heterozygous_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=Ile307Val
|aa_change_short=I307V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13265557
|overall_frequency_n=616
|overall_frequency_d=10754
|overall_frequency=0.057281
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=12
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}