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rs267608564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGC;AGC) 0 common in clinvar
Make rs267608564(-;-)
Make rs267608564(-;AGC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030757
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608564
dbSNP (classic)rs267608564
ClinGenrs267608564
ebirs267608564
HLIrs267608564
Exacrs267608564
Gnomadrs267608564
Varsomers267608564
LitVarrs267608564
Maprs267608564
PheGenIrs267608564
Biobankrs267608564
1000 genomesrs267608564
hgdprs267608564
ensemblrs267608564
geneviewrs267608564
scholarrs267608564
googlers267608564
pharmgkbrs267608564
gwascentralrs267608564
openSNPrs267608564
23andMers267608564
SNPshotrs267608564
SNPdbers267608564
MSV3drs267608564
GWAS Ctlgrs267608564
Max Magnitude0
ClinVar
Risk rs267608564(-;-)
Alt rs267608564(-;-)
Reference Rs267608564(AGC;AGC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296208_153296210delGCT
CLNSRC
CLNACC RCV000132844.2,