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rs104894932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894932(C;G)
Make rs104894932(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18647301
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894932
ebirs104894932
HLIrs104894932
Exacrs104894932
Varsomers104894932
Maprs104894932
PheGenIrs104894932
hapmaprs104894932
1000 genomesrs104894932
hgdprs104894932
ensemblrs104894932
gopubmedrs104894932
geneviewrs104894932
scholarrs104894932
googlers104894932
pharmgkbrs104894932
gwascentralrs104894932
openSNPrs104894932
23andMers104894932
23andMe allrs104894932
SNP Nexus

SNPshotrs104894932
SNPdbers104894932
MSV3drs104894932
GWAS Ctlgrs104894932
Max Magnitude0
OMIM312700
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894932(G,T;G,T)
Alt rs104894932(G,T;G,T)
Reference rs104894932(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.18665421C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010567.2, RCV000085251.1,