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rs61750247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750247(-;-)
Make rs61750247(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030998
GeneMECP2
is asnp
is mentioned by
dbSNPrs61750247
dbSNP (classic)rs61750247
ClinGenrs61750247
ebirs61750247
HLIrs61750247
Exacrs61750247
Gnomadrs61750247
Varsomers61750247
LitVarrs61750247
Maprs61750247
PheGenIrs61750247
Biobankrs61750247
1000 genomesrs61750247
hgdprs61750247
ensemblrs61750247
geneviewrs61750247
scholarrs61750247
googlers61750247
pharmgkbrs61750247
gwascentralrs61750247
openSNPrs61750247
23andMers61750247
SNPshotrs61750247
SNPdbers61750247
MSV3drs61750247
GWAS Ctlgrs61750247
Max Magnitude0
ClinVar
Risk rs61750247(-;-)
Alt rs61750247(-;-)
Reference Rs61750247(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296449delG
CLNSRC
CLNACC RCV000133250.2,