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rs267608543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTACTCC;GTACTCC) 0 common in clinvar
Make rs267608543(-;-)
Make rs267608543(-;GTACTCC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030924
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608543
dbSNP (classic)rs267608543
ClinGenrs267608543
ebirs267608543
HLIrs267608543
Exacrs267608543
Gnomadrs267608543
Varsomers267608543
LitVarrs267608543
Maprs267608543
PheGenIrs267608543
Biobankrs267608543
1000 genomesrs267608543
hgdprs267608543
ensemblrs267608543
geneviewrs267608543
scholarrs267608543
googlers267608543
pharmgkbrs267608543
gwascentralrs267608543
openSNPrs267608543
23andMers267608543
SNPshotrs267608543
SNPdbers267608543
MSV3drs267608543
GWAS Ctlgrs267608543
Max Magnitude0
ClinVar
Risk rs267608543(-;-)
Alt rs267608543(-;-)
Reference Rs267608543(GTACTCC;GTACTCC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296375_153296381delGGAGTAC
CLNSRC
CLNACC RCV000133272.2,