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rs61748418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61748418(-;-)
Make rs61748418(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031345
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748418
dbSNP (classic)rs61748418
ClinGenrs61748418
ebirs61748418
HLIrs61748418
Exacrs61748418
Gnomadrs61748418
Varsomers61748418
LitVarrs61748418
Maprs61748418
PheGenIrs61748418
Biobankrs61748418
1000 genomesrs61748418
hgdprs61748418
ensemblrs61748418
geneviewrs61748418
scholarrs61748418
googlers61748418
pharmgkbrs61748418
gwascentralrs61748418
openSNPrs61748418
23andMers61748418
SNPshotrs61748418
SNPdbers61748418
MSV3drs61748418
GWAS Ctlgrs61748418
Max Magnitude0
ClinVar
Risk rs61748418(-;-)
Alt rs61748418(-;-)
Reference Rs61748418(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296796delC
CLNSRC
CLNACC RCV000133138.2,