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rs199469696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469696(C;T)
Make rs199469696(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18644603
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs199469696
ebirs199469696
HLIrs199469696
Exacrs199469696
Varsomers199469696
Maprs199469696
PheGenIrs199469696
hapmaprs199469696
1000 genomesrs199469696
hgdprs199469696
ensemblrs199469696
gopubmedrs199469696
geneviewrs199469696
scholarrs199469696
googlers199469696
pharmgkbrs199469696
gwascentralrs199469696
openSNPrs199469696
23andMers199469696
23andMe allrs199469696
SNP Nexus

SNPshotrs199469696
SNPdbers199469696
MSV3drs199469696
GWAS Ctlgrs199469696
Max Magnitude0
ClinVar
Risk rs199469696(T;T)
Alt rs199469696(T;T)
Reference rs199469696(C;C)
Significance Untested
Disease Juvenile retinoschisis Macular schisis Peripheral schisis
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis Macular schisis Peripheral schisis
Reversed 1
HGVS NC_000023.10:g.18662723G>A
CLNSRC ClinVar
CLNACC RCV000058876.1,