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rs61752063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61752063(A;G)
Make rs61752063(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647231
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61752063
ebirs61752063
HLIrs61752063
Exacrs61752063
Varsomers61752063
Maprs61752063
PheGenIrs61752063
hapmaprs61752063
1000 genomesrs61752063
hgdprs61752063
ensemblrs61752063
gopubmedrs61752063
geneviewrs61752063
scholarrs61752063
googlers61752063
pharmgkbrs61752063
gwascentralrs61752063
openSNPrs61752063
23andMers61752063
23andMe allrs61752063
SNP Nexus

SNPshotrs61752063
SNPdbers61752063
MSV3drs61752063
GWAS Ctlgrs61752063
Max Magnitude0
OMIM312700
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61752063(G;G)
Alt rs61752063(G;G)
Reference rs61752063(A;A)
Significance Pathogenic
Disease Juvenile retinoschisis not provided
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis not provided
Reversed 0
HGVS NC_000023.10:g.18665351A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010564.5, RCV000085262.1,