{{Rsnum
|rsid=199469696
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RS1
|position=18644603
|Gene_s=CDKL5,RS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=199469696
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=18662723
|CHROM=X
|dbSNPBuildID=137
|SSR=0
|SAO=1
|VP=0x050260080601000002110100
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.18662723G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300839.0011; 300839.0011; 300839.0011; 300839.0011; 300839.0011; 300839.0011; 300839.0011
|CLNSIG=1
|CLNCUI=C0271091; C0271091; C0271091; C0271091; C0271091; C0271091; C0271091
|CLNDBN=Juvenile retinoschisis
|Disease=Juvenile retinoschisis
|CLNACC=SCV000030800.1; SCV000030800.1; SCV000030800.1; SCV000030800.1; SCV000030800.1; SCV000030800.1; SCV000030800.1
|Tags=RV;PM;S3D;NSN;REF;INT;OTHERKG;LSD;OM
|GENEINFO=CDKL5:6792; RS1:6247
|GENE_ID=6792; 6247
|GENE_NAME=CDKL5; RS1
}}