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rs267608623

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608623(-;-)
Make rs267608623(-;C)
Make rs267608623(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604235
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608623
ebirs267608623
HLIrs267608623
Exacrs267608623
Varsomers267608623
Maprs267608623
PheGenIrs267608623
hapmaprs267608623
1000 genomesrs267608623
hgdprs267608623
ensemblrs267608623
gopubmedrs267608623
geneviewrs267608623
scholarrs267608623
googlers267608623
pharmgkbrs267608623
gwascentralrs267608623
openSNPrs267608623
23andMers267608623
23andMe allrs267608623
SNP Nexus

SNPshotrs267608623
SNPdbers267608623
MSV3drs267608623
GWAS Ctlgrs267608623
Max Magnitude0
ClinVar
Risk rs267608623(C;C)
Alt rs267608623(C;C)
Reference rs267608623(;)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622355dupC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133321.2,