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rs61749734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAG;GAAG) 0 common in clinvar
Make rs61749734(-;-)
Make rs61749734(-;GAAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031171
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749734
dbSNP (classic)rs61749734
ClinGenrs61749734
ebirs61749734
HLIrs61749734
Exacrs61749734
Gnomadrs61749734
Varsomers61749734
LitVarrs61749734
Maprs61749734
PheGenIrs61749734
Biobankrs61749734
1000 genomesrs61749734
hgdprs61749734
ensemblrs61749734
geneviewrs61749734
scholarrs61749734
googlers61749734
pharmgkbrs61749734
gwascentralrs61749734
openSNPrs61749734
23andMers61749734
SNPshotrs61749734
SNPdbers61749734
MSV3drs61749734
GWAS Ctlgrs61749734
Max Magnitude0
ClinVar
Risk rs61749734(-;-)
Alt rs61749734(-;-)
Reference Rs61749734(GAAG;GAAG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296622_153296625delCTTC
CLNSRC
CLNACC RCV000133189.2,