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

rs267608479

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608479(A;A)
Make rs267608479(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18581951
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608479
ebirs267608479
HLIrs267608479
Exacrs267608479
Varsomers267608479
Maprs267608479
PheGenIrs267608479
hapmaprs267608479
1000 genomesrs267608479
hgdprs267608479
ensemblrs267608479
gopubmedrs267608479
geneviewrs267608479
scholarrs267608479
googlers267608479
pharmgkbrs267608479
gwascentralrs267608479
openSNPrs267608479
23andMers267608479
23andMe allrs267608479
SNP Nexus

SNPshotrs267608479
SNPdbers267608479
MSV3drs267608479
GWAS Ctlgrs267608479
Max Magnitude0
ClinVar
Risk rs267608479(A;A)
Alt rs267608479(A;A)
Reference rs267608479(G;G)
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.18600071G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144135.1, RCV000170044.1,