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rs267608453

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608453(C;T)
Make rs267608453(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18579917
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608453
ebirs267608453
HLIrs267608453
Exacrs267608453
Varsomers267608453
Maprs267608453
PheGenIrs267608453
hapmaprs267608453
1000 genomesrs267608453
hgdprs267608453
ensemblrs267608453
gopubmedrs267608453
geneviewrs267608453
scholarrs267608453
googlers267608453
pharmgkbrs267608453
gwascentralrs267608453
openSNPrs267608453
23andMers267608453
23andMe allrs267608453
SNP Nexus

SNPshotrs267608453
SNPdbers267608453
MSV3drs267608453
GWAS Ctlgrs267608453
Max Magnitude0
ClinVar
Risk rs267608453(T;T)
Alt rs267608453(T;T)
Reference rs267608453(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18598037C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133365.2,