Have questions? Visit https://www.reddit.com/r/SNPedia

rs62643608

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62643608(-;-)
Make rs62643608(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575391
GeneCDKL5
is asnp
is mentioned by
dbSNPrs62643608
ebirs62643608
HLIrs62643608
Exacrs62643608
Varsomers62643608
Maprs62643608
PheGenIrs62643608
hapmaprs62643608
1000 genomesrs62643608
hgdprs62643608
ensemblrs62643608
gopubmedrs62643608
geneviewrs62643608
scholarrs62643608
googlers62643608
pharmgkbrs62643608
gwascentralrs62643608
openSNPrs62643608
23andMers62643608
23andMe allrs62643608
SNP Nexus

SNPshotrs62643608
SNPdbers62643608
MSV3drs62643608
GWAS Ctlgrs62643608
Max Magnitude0
ClinVar
Risk rs62643608(;)
Alt rs62643608(;)
Reference rs62643608(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism
Reversed 0
HGVS NC_000023.10:g.18593511delT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133332.2, RCV000170012.1, RCV000170013.1,