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rs267608541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608541(-;-)
Make rs267608541(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030945
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608541
dbSNP (classic)rs267608541
ClinGenrs267608541
ebirs267608541
HLIrs267608541
Exacrs267608541
Gnomadrs267608541
Varsomers267608541
LitVarrs267608541
Maprs267608541
PheGenIrs267608541
Biobankrs267608541
1000 genomesrs267608541
hgdprs267608541
ensemblrs267608541
geneviewrs267608541
scholarrs267608541
googlers267608541
pharmgkbrs267608541
gwascentralrs267608541
openSNPrs267608541
23andMers267608541
SNPshotrs267608541
SNPdbers267608541
MSV3drs267608541
GWAS Ctlgrs267608541
Max Magnitude0
ClinVar
Risk rs267608541(-;-)
Alt rs267608541(-;-)
Reference Rs267608541(T;T)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296396delA
CLNSRC
CLNACC RCV000133268.2,