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rs267608517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs267608517(-;G)
Make rs267608517(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031117
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608517
dbSNP (classic)rs267608517
ClinGenrs267608517
ebirs267608517
HLIrs267608517
Exacrs267608517
Gnomadrs267608517
Varsomers267608517
LitVarrs267608517
Maprs267608517
PheGenIrs267608517
Biobankrs267608517
1000 genomesrs267608517
hgdprs267608517
ensemblrs267608517
geneviewrs267608517
scholarrs267608517
googlers267608517
pharmgkbrs267608517
gwascentralrs267608517
openSNPrs267608517
23andMers267608517
SNPshotrs267608517
SNPdbers267608517
MSV3drs267608517
GWAS Ctlgrs267608517
Max Magnitude0
ClinVar
Risk rs267608517(G;G)
Alt rs267608517(G;G)
Reference Rs267608517(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296569dupC
CLNSRC
CLNACC RCV000133208.3,