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rs267608440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608440(C;T)
Make rs267608440(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154032360
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608440
dbSNP (classic)rs267608440
ClinGenrs267608440
ebirs267608440
HLIrs267608440
Exacrs267608440
Gnomadrs267608440
Varsomers267608440
LitVarrs267608440
Maprs267608440
PheGenIrs267608440
Biobankrs267608440
1000 genomesrs267608440
hgdprs267608440
ensemblrs267608440
geneviewrs267608440
scholarrs267608440
googlers267608440
pharmgkbrs267608440
gwascentralrs267608440
openSNPrs267608440
23andMers267608440
SNPshotrs267608440
SNPdbers267608440
MSV3drs267608440
GWAS Ctlgrs267608440
Max Magnitude0
ClinVar
Risk rs267608440(T;T)
Alt rs267608440(T;T)
Reference Rs267608440(C;C)
Significance Pathogenic
Disease not specified Rett syndrome
Variation info
Gene MECP2
CLNDBN not specified Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297811G>A
CLNSRC
CLNACC RCV000133035.2, RCV000195208.2,