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rs267608443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs267608443(-;C)
Make rs267608443(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032340
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608443
dbSNP (classic)rs267608443
ClinGenrs267608443
ebirs267608443
HLIrs267608443
Exacrs267608443
Gnomadrs267608443
Varsomers267608443
LitVarrs267608443
Maprs267608443
PheGenIrs267608443
Biobankrs267608443
1000 genomesrs267608443
hgdprs267608443
ensemblrs267608443
geneviewrs267608443
scholarrs267608443
googlers267608443
pharmgkbrs267608443
gwascentralrs267608443
openSNPrs267608443
23andMers267608443
SNPshotrs267608443
SNPdbers267608443
MSV3drs267608443
GWAS Ctlgrs267608443
Max Magnitude0
ClinVar
Risk rs267608443(C;C)
Alt rs267608443(C;C)
Reference Rs267608443(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297792dupG
CLNSRC
CLNACC RCV000133039.2,