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rs267608646

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608646(-;-)
Make rs267608646(-;TA)
Make rs267608646(TA;TA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604817
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608646
ebirs267608646
HLIrs267608646
Exacrs267608646
Varsomers267608646
Maprs267608646
PheGenIrs267608646
hapmaprs267608646
1000 genomesrs267608646
hgdprs267608646
ensemblrs267608646
gopubmedrs267608646
geneviewrs267608646
scholarrs267608646
googlers267608646
pharmgkbrs267608646
gwascentralrs267608646
openSNPrs267608646
23andMers267608646
23andMe allrs267608646
SNP Nexus

SNPshotrs267608646
SNPdbers267608646
MSV3drs267608646
GWAS Ctlgrs267608646
Max Magnitude0
ClinVar
Risk rs267608646(AT;AT)
Alt rs267608646(AT;AT)
Reference rs267608646(;)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622936_18622937dupTA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133334.2,