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rs267608485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608485(-;-)
Make rs267608485(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031353
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608485
dbSNP (classic)rs267608485
ClinGenrs267608485
ebirs267608485
HLIrs267608485
Exacrs267608485
Gnomadrs267608485
Varsomers267608485
LitVarrs267608485
Maprs267608485
PheGenIrs267608485
Biobankrs267608485
1000 genomesrs267608485
hgdprs267608485
ensemblrs267608485
geneviewrs267608485
scholarrs267608485
googlers267608485
pharmgkbrs267608485
gwascentralrs267608485
openSNPrs267608485
23andMers267608485
SNPshotrs267608485
SNPdbers267608485
MSV3drs267608485
GWAS Ctlgrs267608485
Max Magnitude0
ClinVar
Risk rs267608485(-;-)
Alt rs267608485(-;-)
Reference Rs267608485(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296804delC
CLNSRC
CLNACC RCV000133131.2,