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rs61748389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61748389(G;T)
Make rs61748389(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154031430
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748389
dbSNP (classic)rs61748389
ClinGenrs61748389
ebirs61748389
HLIrs61748389
Exacrs61748389
Gnomadrs61748389
Varsomers61748389
LitVarrs61748389
Maprs61748389
PheGenIrs61748389
Biobankrs61748389
1000 genomesrs61748389
hgdprs61748389
ensemblrs61748389
geneviewrs61748389
scholarrs61748389
googlers61748389
pharmgkbrs61748389
gwascentralrs61748389
openSNPrs61748389
23andMers61748389
SNPshotrs61748389
SNPdbers61748389
MSV3drs61748389
GWAS Ctlgrs61748389
Max Magnitude0
ClinVar
Risk rs61748389(A;A) rs61748389(T;T)
Alt rs61748389(A;A) rs61748389(T;T)
Reference Rs61748389(G;G)
Significance Pathogenic
Disease Rett syndrome not provided
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided
Reversed 1
HGVS NC_000023.10:g.153296881C>A; NC_000023.10:g.153296881C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000133093.2, RCV000133092.5, RCV000169945.1,