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rs267608430

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608430(C;C)
Make rs267608430(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18564524
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608430
ebirs267608430
HLIrs267608430
Exacrs267608430
Varsomers267608430
Maprs267608430
PheGenIrs267608430
hapmaprs267608430
1000 genomesrs267608430
hgdprs267608430
ensemblrs267608430
gopubmedrs267608430
geneviewrs267608430
scholarrs267608430
googlers267608430
pharmgkbrs267608430
gwascentralrs267608430
openSNPrs267608430
23andMers267608430
23andMe allrs267608430
SNP Nexus

SNPshotrs267608430
SNPdbers267608430
MSV3drs267608430
GWAS Ctlgrs267608430
Max Magnitude0
ClinVar
Risk rs267608430(C;C)
Alt rs267608430(C;C)
Reference rs267608430(T;T)
Significance Pathogenic
Disease not provided Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN not provided Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18582644T>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144121.1, RCV000169999.1,