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rs267608558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGCGG;AGCGG) 0 common in clinvar
Make rs267608558(-;-)
Make rs267608558(-;AGCGG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030830
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608558
dbSNP (classic)rs267608558
ClinGenrs267608558
ebirs267608558
HLIrs267608558
Exacrs267608558
Gnomadrs267608558
Varsomers267608558
LitVarrs267608558
Maprs267608558
PheGenIrs267608558
Biobankrs267608558
1000 genomesrs267608558
hgdprs267608558
ensemblrs267608558
geneviewrs267608558
scholarrs267608558
googlers267608558
pharmgkbrs267608558
gwascentralrs267608558
openSNPrs267608558
23andMers267608558
SNPshotrs267608558
SNPdbers267608558
MSV3drs267608558
GWAS Ctlgrs267608558
Max Magnitude0
ClinVar
Risk rs267608558(-;-)
Alt rs267608558(-;-)
Reference Rs267608558(AGCGG;AGCGG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296281_153296285delCCGCT
CLNSRC
CLNACC RCV000133309.2,