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rs61749724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749724(C;G)
Make rs61749724(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031217
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749724
dbSNP (classic)rs61749724
ClinGenrs61749724
ebirs61749724
HLIrs61749724
Exacrs61749724
Gnomadrs61749724
Varsomers61749724
LitVarrs61749724
Maprs61749724
PheGenIrs61749724
Biobankrs61749724
1000 genomesrs61749724
hgdprs61749724
ensemblrs61749724
geneviewrs61749724
scholarrs61749724
googlers61749724
pharmgkbrs61749724
gwascentralrs61749724
openSNPrs61749724
23andMers61749724
SNPshotrs61749724
SNPdbers61749724
MSV3drs61749724
GWAS Ctlgrs61749724
Max Magnitude0
ClinVar
Risk rs61749724(G;G)
Alt rs61749724(G;G)
Reference Rs61749724(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.153296668G>C
CLNSRC HGMD
CLNACC RCV000081207.5, RCV000169936.2, RCV000178230.1,