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rs61748400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61748400(-;-)
Make rs61748400(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031397
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748400
dbSNP (classic)rs61748400
ClinGenrs61748400
ebirs61748400
HLIrs61748400
Exacrs61748400
Gnomadrs61748400
Varsomers61748400
LitVarrs61748400
Maprs61748400
PheGenIrs61748400
Biobankrs61748400
1000 genomesrs61748400
hgdprs61748400
ensemblrs61748400
geneviewrs61748400
scholarrs61748400
googlers61748400
pharmgkbrs61748400
gwascentralrs61748400
openSNPrs61748400
23andMers61748400
SNPshotrs61748400
SNPdbers61748400
MSV3drs61748400
GWAS Ctlgrs61748400
Max Magnitude0
ClinVar
Risk rs61748400(-;-)
Alt rs61748400(-;-)
Reference Rs61748400(A;A)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296848delT
CLNSRC
CLNACC RCV000133109.2,