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rs267608516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs267608516(-;G)
Make rs267608516(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031132
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608516
dbSNP (classic)rs267608516
ClinGenrs267608516
ebirs267608516
HLIrs267608516
Exacrs267608516
Gnomadrs267608516
Varsomers267608516
LitVarrs267608516
Maprs267608516
PheGenIrs267608516
Biobankrs267608516
1000 genomesrs267608516
hgdprs267608516
ensemblrs267608516
geneviewrs267608516
scholarrs267608516
googlers267608516
pharmgkbrs267608516
gwascentralrs267608516
openSNPrs267608516
23andMers267608516
SNPshotrs267608516
SNPdbers267608516
MSV3drs267608516
GWAS Ctlgrs267608516
Max Magnitude0
ClinVar
Risk rs267608516(G;G)
Alt rs267608516(G;G)
Reference Rs267608516(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296584dupC
CLNSRC
CLNACC RCV000133204.2,