Have questions? Visit https://www.reddit.com/r/SNPedia

rs61752068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752068(C;T)
Make rs61752068(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647212
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61752068
ebirs61752068
HLIrs61752068
Exacrs61752068
Varsomers61752068
Maprs61752068
PheGenIrs61752068
hapmaprs61752068
1000 genomesrs61752068
hgdprs61752068
ensemblrs61752068
gopubmedrs61752068
geneviewrs61752068
scholarrs61752068
googlers61752068
pharmgkbrs61752068
gwascentralrs61752068
openSNPrs61752068
23andMers61752068
23andMe allrs61752068
SNP Nexus

SNPshotrs61752068
SNPdbers61752068
MSV3drs61752068
GWAS Ctlgrs61752068
Max Magnitude0
OMIM312700
Desc
Variant0011
Relatedalso


ClinVar
Risk rs61752068(T;T)
Alt rs61752068(T;T)
Reference rs61752068(C;C)
Significance Pathogenic
Disease Juvenile retinoschisis not provided
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis not provided
Reversed 0
HGVS NC_000023.10:g.18665332C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010574.2, RCV000085269.1,