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rs267608457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608457(-;-)
Make rs267608457(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032209
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608457
dbSNP (classic)rs267608457
ClinGenrs267608457
ebirs267608457
HLIrs267608457
Exacrs267608457
Gnomadrs267608457
Varsomers267608457
LitVarrs267608457
Maprs267608457
PheGenIrs267608457
Biobankrs267608457
1000 genomesrs267608457
hgdprs267608457
ensemblrs267608457
geneviewrs267608457
scholarrs267608457
googlers267608457
pharmgkbrs267608457
gwascentralrs267608457
openSNPrs267608457
23andMers267608457
SNPshotrs267608457
SNPdbers267608457
MSV3drs267608457
GWAS Ctlgrs267608457
Max Magnitude0
ClinVar
Risk rs267608457(-;-)
Alt rs267608457(-;-)
Reference Rs267608457(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297660delG
CLNSRC
CLNACC RCV000133084.2,