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rs61749729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749729(C;T)
Make rs61749729(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031206
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749729
dbSNP (classic)rs61749729
ClinGenrs61749729
ebirs61749729
HLIrs61749729
Exacrs61749729
Gnomadrs61749729
Varsomers61749729
LitVarrs61749729
Maprs61749729
PheGenIrs61749729
Biobankrs61749729
1000 genomesrs61749729
hgdprs61749729
ensemblrs61749729
geneviewrs61749729
scholarrs61749729
googlers61749729
pharmgkbrs61749729
gwascentralrs61749729
openSNPrs61749729
23andMers61749729
SNPshotrs61749729
SNPdbers61749729
MSV3drs61749729
GWAS Ctlgrs61749729
Max Magnitude0
ClinVar
Risk rs61749729(T;T)
Alt rs61749729(T;T)
Reference Rs61749729(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296657G>A
CLNSRC
CLNACC RCV000133181.2,