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rs267608544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608544(-;-)
Make rs267608544(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030930
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608544
dbSNP (classic)rs267608544
ClinGenrs267608544
ebirs267608544
HLIrs267608544
Exacrs267608544
Gnomadrs267608544
Varsomers267608544
LitVarrs267608544
Maprs267608544
PheGenIrs267608544
Biobankrs267608544
1000 genomesrs267608544
hgdprs267608544
ensemblrs267608544
geneviewrs267608544
scholarrs267608544
googlers267608544
pharmgkbrs267608544
gwascentralrs267608544
openSNPrs267608544
23andMers267608544
SNPshotrs267608544
SNPdbers267608544
MSV3drs267608544
GWAS Ctlgrs267608544
Max Magnitude0
ClinVar
Risk rs267608544(-;-)
Alt rs267608544(-;-)
Reference Rs267608544(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296381delC
CLNSRC
CLNACC RCV000133273.2,