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rs62653623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62653623(C;T)
Make rs62653623(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18575383
GeneCDKL5
is asnp
is mentioned by
dbSNPrs62653623
ebirs62653623
HLIrs62653623
Exacrs62653623
Varsomers62653623
Maprs62653623
PheGenIrs62653623
hapmaprs62653623
1000 genomesrs62653623
hgdprs62653623
ensemblrs62653623
gopubmedrs62653623
geneviewrs62653623
scholarrs62653623
googlers62653623
pharmgkbrs62653623
gwascentralrs62653623
openSNPrs62653623
23andMers62653623
23andMe allrs62653623
SNP Nexus

SNPshotrs62653623
SNPdbers62653623
MSV3drs62653623
GWAS Ctlgrs62653623
Max Magnitude0
ClinVar
Risk rs62653623(T;T)
Alt rs62653623(T;T)
Reference rs62653623(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18593503C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000145523.2, RCV000170010.1,