{{Rsnum
|rsid=104894934
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=RS1
|position=18647192
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CDKL5,RS1
}}{{omim
|id=312700
|rsnum=104894934
|variant=0006
}}{{ClinVar
|rsid=104894934
|Reversed=0
|FwdREF=C
|FwdALT=A,G
|REF=C
|ALT=A,G
|RSPOS=18665312
|CHROM=X
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=CDKL5:6792; RS1:6247
|GENE_NAME=CDKL5; RS1
|GENE_ID=6792; 6247
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000023.10:g.18665312C>A; NC_000023.10:g.18665312C>G
|CLNORIGIN=1
|CLNSIG=5
|CLNCUI=312700
|CLNDBN=not provided; Juvenile retinoschisis
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000085275.1; RCV000010569.2; RCV000085274.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1222:C0271091:312700:792:86923008
|CLNSRC=Retina International; OMIM Allelic Variant
|CLNSRCID=RISN-XLRS:c.325G>T; 300839.0006; RISN-XLRS:c.325G>C
|Disease=not provided; Juvenile retinoschisis
}}