{{Rsnum
|rsid=111033386
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=USH2A
|position=216046532
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033386
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=216046532
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000605000002100100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216046532C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;NSN;REF;ASP;OTHERKG;LSD
|CLNACC=RCV000041880.1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|Disease=Retinitis pigmentosa-deafness syndrome
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.6224G>A
}}