{{Rsnum
|rsid=200311463
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PDE6H
|position=14978047
|Gene_s=PDE6H
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CAF=0.9995; 0.0004591
|CHROM=12
|CLNACC=RCV000030807.2; RCV000055928.1
|CLNALLE=1
|CLNDBN=Achromatopsia 6; Retinal cone dystrophy 3A
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=CN158542; NBK1418:C1864900:610024:49382
|CLNHGVS=NC_000012.11:g.15130981C>G
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1418; 601190.0002
|COMMON=0
|Disease=Achromatopsia 6; Retinal cone dystrophy 3A
|FwdALT=G
|FwdREF=C
|GENEINFO=PDE6H:5149
|GENE_ID=5149
|GENE_NAME=PDE6H
|REF=C
|RSPOS=15130981
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000016110100
|WGT=0
|dbSNPBuildID=136
|rsid=200311463
}}