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rs61750231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750231(-;-)
Make rs61750231(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031075
GeneMECP2
is asnp
is mentioned by
dbSNPrs61750231
dbSNP (classic)rs61750231
ClinGenrs61750231
ebirs61750231
HLIrs61750231
Exacrs61750231
Gnomadrs61750231
Varsomers61750231
LitVarrs61750231
Maprs61750231
PheGenIrs61750231
Biobankrs61750231
1000 genomesrs61750231
hgdprs61750231
ensemblrs61750231
geneviewrs61750231
scholarrs61750231
googlers61750231
pharmgkbrs61750231
gwascentralrs61750231
openSNPrs61750231
23andMers61750231
SNPshotrs61750231
SNPdbers61750231
MSV3drs61750231
GWAS Ctlgrs61750231
Max Magnitude0
ClinVar
Risk rs61750231(-;-)
Alt rs61750231(-;-)
Reference Rs61750231(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296526delG
CLNSRC
CLNACC RCV000133228.3,