{{Rsnum
|rsid=61749665
|Gene=GUCY2D
|Chromosome=17
|position=8003201
|Orientation=plus
|GMAF=0.3765
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=GUCY2D
}}{{omim
|id=600179
|rsnum=61749665
|variant=0004
}}

{{ClinVar
|rsid=61749665
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=7906519
|CHROM=17
|GMAF=0.3768
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050160000000170116110100
|GENEINFO=GUCY2D:3000
|GENE_NAME=GUCY2D
|GENE_ID=3000
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.7906519G>T
|CLNSRC=Emory University; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=8909; 600179.0004; RISN-GC1:c.154G>T
|CLNSIG=2
|CLNCUI=CN034165
|CLNDBN=Leber congenital amaurosis 1; AllHighlyPenetrant; not provided
|Disease=Leber congenital amaurosis 1; AllHighlyPenetrant; not provided
|CLNACC=RCV000009947.1; RCV000078318.1; RCV000084835.1
|Tags=PM;SLO;VLD;G5A;G5;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.6235; 0.3765
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1298:CN034165:204000:65:193413001; CN169374
|COMMON=1
}}

{{GET Evidence
|gene=GUCY2D
|aa_change=Ala52Ser
|aa_change_short=A52S
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs61749665
|overall_frequency_n=1659
|overall_frequency_d=7894
|overall_frequency=0.21016
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.026
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}