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rs61748391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61748391(A;G)
Make rs61748391(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154031425
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748391
dbSNP (classic)rs61748391
ClinGenrs61748391
ebirs61748391
HLIrs61748391
Exacrs61748391
Gnomadrs61748391
Varsomers61748391
LitVarrs61748391
Maprs61748391
PheGenIrs61748391
Biobankrs61748391
1000 genomesrs61748391
hgdprs61748391
ensemblrs61748391
geneviewrs61748391
scholarrs61748391
googlers61748391
pharmgkbrs61748391
gwascentralrs61748391
openSNPrs61748391
23andMers61748391
SNPshotrs61748391
SNPdbers61748391
MSV3drs61748391
GWAS Ctlgrs61748391
Max Magnitude0
ClinVar
Risk rs61748391(G;G)
Alt rs61748391(G;G)
Reference Rs61748391(A;A)
Significance Pathogenic
Disease Rett syndrome not provided
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided
Reversed 1
HGVS NC_000023.10:g.153296876T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000133097.2, RCV000424796.1,