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rs104894928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894928(C;T)
Make rs104894928(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647303
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894928
ebirs104894928
HLIrs104894928
Exacrs104894928
Varsomers104894928
Maprs104894928
PheGenIrs104894928
hapmaprs104894928
1000 genomesrs104894928
hgdprs104894928
ensemblrs104894928
gopubmedrs104894928
geneviewrs104894928
scholarrs104894928
googlers104894928
pharmgkbrs104894928
gwascentralrs104894928
openSNPrs104894928
23andMers104894928
23andMe allrs104894928
SNP Nexus

SNPshotrs104894928
SNPdbers104894928
MSV3drs104894928
GWAS Ctlgrs104894928
Max Magnitude0
OMIM312700
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894928(G,T;G,T)
Alt rs104894928(G,T;G,T)
Reference rs104894928(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.18665423C>G; NC_000023.10:g.18665423C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000085250.1, RCV000010566.6, RCV000085249.1,