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rs267608468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608468(A;G)
Make rs267608468(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18579945
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608468
ebirs267608468
HLIrs267608468
Exacrs267608468
Varsomers267608468
Maprs267608468
PheGenIrs267608468
hapmaprs267608468
1000 genomesrs267608468
hgdprs267608468
ensemblrs267608468
gopubmedrs267608468
geneviewrs267608468
scholarrs267608468
googlers267608468
pharmgkbrs267608468
gwascentralrs267608468
openSNPrs267608468
23andMers267608468
23andMe allrs267608468
SNP Nexus

SNPshotrs267608468
SNPdbers267608468
MSV3drs267608468
GWAS Ctlgrs267608468
Max Magnitude0
ClinVar
Risk rs267608468(G;G)
Alt rs267608468(G;G)
Reference rs267608468(A;A)
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.18598065A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133366.4, RCV000169914.1,