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rs104894934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894934(C;G)
Make rs104894934(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647192
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894934
ebirs104894934
HLIrs104894934
Exacrs104894934
Varsomers104894934
Maprs104894934
PheGenIrs104894934
hapmaprs104894934
1000 genomesrs104894934
hgdprs104894934
ensemblrs104894934
gopubmedrs104894934
geneviewrs104894934
scholarrs104894934
googlers104894934
pharmgkbrs104894934
gwascentralrs104894934
openSNPrs104894934
23andMers104894934
23andMe allrs104894934
SNP Nexus

SNPshotrs104894934
SNPdbers104894934
MSV3drs104894934
GWAS Ctlgrs104894934
Max Magnitude0
OMIM312700
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894934(A,G;A,G)
Alt rs104894934(A,G;A,G)
Reference rs104894934(C;C)
Significance Pathogenic
Disease not provided Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN not provided Juvenile retinoschisis
Reversed 0
HGVS NC_000023.10:g.18665312C>A; NC_000023.10:g.18665312C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000085275.1, RCV000010569.3, RCV000085274.1,