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rs61749747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749747(C;T)
Make rs61749747(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031098
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749747
dbSNP (classic)rs61749747
ClinGenrs61749747
ebirs61749747
HLIrs61749747
Exacrs61749747
Gnomadrs61749747
Varsomers61749747
LitVarrs61749747
Maprs61749747
PheGenIrs61749747
Biobankrs61749747
1000 genomesrs61749747
hgdprs61749747
ensemblrs61749747
geneviewrs61749747
scholarrs61749747
googlers61749747
pharmgkbrs61749747
gwascentralrs61749747
openSNPrs61749747
23andMers61749747
SNPshotrs61749747
SNPdbers61749747
MSV3drs61749747
GWAS Ctlgrs61749747
Max Magnitude0
ClinVar
Risk rs61749747(T;T)
Alt rs61749747(T;T)
Reference Rs61749747(C;C)
Significance Pathogenic
Disease not provided Rett syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296549G>A
CLNSRC HGMD
CLNACC RCV000081208.5, RCV000168689.4, RCV000178228.1,