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rs61752067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
Make rs61752067(A;A)
Make rs61752067(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647213
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61752067
ebirs61752067
HLIrs61752067
Exacrs61752067
Varsomers61752067
Maprs61752067
PheGenIrs61752067
hapmaprs61752067
1000 genomesrs61752067
hgdprs61752067
ensemblrs61752067
gopubmedrs61752067
geneviewrs61752067
scholarrs61752067
googlers61752067
pharmgkbrs61752067
gwascentralrs61752067
openSNPrs61752067
23andMers61752067
23andMe allrs61752067
SNP Nexus

SNPshotrs61752067
SNPdbers61752067
MSV3drs61752067
GWAS Ctlgrs61752067
Max Magnitude0
OMIM312700
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61752067(A;A)
Alt rs61752067(A;A)
Reference rs61752067(G;G)
Significance Pathogenic
Disease Juvenile retinoschisis not provided Retinal dystrophy
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis not provided Retinal dystrophy
Reversed 0
HGVS NC_000023.10:g.18665333G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010565.5, RCV000085268.1, RCV000210291.1,