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rs104894933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894933(A;A)
Make rs104894933(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647296
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894933
ebirs104894933
HLIrs104894933
Exacrs104894933
Varsomers104894933
Maprs104894933
PheGenIrs104894933
hapmaprs104894933
1000 genomesrs104894933
hgdprs104894933
ensemblrs104894933
gopubmedrs104894933
geneviewrs104894933
scholarrs104894933
googlers104894933
pharmgkbrs104894933
gwascentralrs104894933
openSNPrs104894933
23andMers104894933
23andMe allrs104894933
SNP Nexus

SNPshotrs104894933
SNPdbers104894933
MSV3drs104894933
GWAS Ctlgrs104894933
Max Magnitude0
OMIM312700
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894933(A;A)
Alt rs104894933(A;A)
Reference rs104894933(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.18665416C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010568.2, RCV000085254.1,