{{Rsnum
|rsid=8069344
|Gene=GUCY2D
|Chromosome=17
|position=8013961
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.1552
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=GUCY2D
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 0.0 | 27.7 | 72.3
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 19.0 | 50.8 | 30.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=8069344
|allele=A
|frequency=0.133
|uid=1103645274016
|type=heterozygous_SNP
|hugo=GUCY2D
|ensembl gene=ENSG00000132518
|ensembl transcript=ENST00000254854
|sift=TOLERATED
|disease=Defects in GUCY2D are a cause of dominant cone-rod dystrophy type 6 (CORD6) (MIM:601777). It is characterized by the initial degeneration of cone photoreceptor cells, causing early loss of visual acuity and color vision, followed by the degeneration of rod photoreceptor cells leading to progressive night blindness and peripheral visual field loss. The disease displays phenotypic heterogeneity and different gene locis are involved.
}}

{{ neighbor
| rsid = 28933695
| distance = 738
}}

{{PMID Auto
|PMID=18936139
|Title=Mutation survey of known LCA genes and loci in the Saudi Arabian population.
|OA=1
}}

{{GET Evidence
|gene=GUCY2D
|aa_change=Leu782His
|aa_change_short=L782H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs8069344
|overall_frequency_n=2322
|overall_frequency_d=10758
|overall_frequency=0.215839
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=3
|n_web_uneval=2
}}

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